Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Q3
- Autores:
-
Glinton, Kevin E.
Hurst, Anna C. E.
Bowling, Kevin M.
Cristian, Ingrid
Haynes, Devon
Adstamongkonkul, Dusit
Schnappauf, Oskar
Beck, David B.
Brewer, Carole
Parikh, Aditi Shah
Shinde, Deepali N.
Donaldson, Alan
Brautbar, Ariel
Koene, Saskia
Haeringen, Arie van
Piton, Amélie
Capri, Yline
Furlan, Margherita
Gardella, Elena
Møller, Rikke Steensbjerre
de Beek, Irma van
Zuurbier, Linda
Lakeman, Phillis
Bayat, Allan
Martinez, Julian
Signer, Rebecca
Torring, Pernille M.
Engelund, Morten Buch
Gripp, Karen W.
Amlie-Wolf, Louise
Henderson, Lindsay B.
Midro, Alina T.
Tarasów, Eugeniusz
Stasiewicz-Jarocka, Beata
Moskal-Jasinska, Diana
Vos, Paul
Boschann, Felix
Stoltenburg, Corinna
Puk, Oliver
Lise Mero, Inger
Lossius, Kristine
Mignot, Cyril
Keren, Boris
Acosta Guio, Johanna C.
Briceño Balcázar, Ignacio
Gómez, Alberto
Yang, Yaping
Stankiewicz, Pawel
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2021
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/53007
- Acceso en línea:
- https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62102
http://hdl.handle.net/10554/53007
https://doi.org/10.1002/ajmg.a.62102
- Palabra clave:
- Chromatin remodeling
Epilepsy
Microcephaly
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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| dc.title.spa.fl_str_mv |
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| title |
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| spellingShingle |
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Chromatin remodeling Epilepsy Microcephaly |
| title_short |
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| title_full |
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| title_fullStr |
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| title_full_unstemmed |
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| title_sort |
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| dc.creator.fl_str_mv |
Glinton, Kevin E. Hurst, Anna C. E. Bowling, Kevin M. Cristian, Ingrid Haynes, Devon Adstamongkonkul, Dusit Schnappauf, Oskar Beck, David B. Brewer, Carole Parikh, Aditi Shah Shinde, Deepali N. Donaldson, Alan Brautbar, Ariel Koene, Saskia Haeringen, Arie van Piton, Amélie Capri, Yline Furlan, Margherita Gardella, Elena Møller, Rikke Steensbjerre de Beek, Irma van Zuurbier, Linda Lakeman, Phillis Bayat, Allan Martinez, Julian Signer, Rebecca Torring, Pernille M. Engelund, Morten Buch Gripp, Karen W. Amlie-Wolf, Louise Henderson, Lindsay B. Midro, Alina T. Tarasów, Eugeniusz Stasiewicz-Jarocka, Beata Moskal-Jasinska, Diana Vos, Paul Boschann, Felix Stoltenburg, Corinna Puk, Oliver Lise Mero, Inger Lossius, Kristine Mignot, Cyril Keren, Boris Acosta Guio, Johanna C. Briceño Balcázar, Ignacio Gómez, Alberto Yang, Yaping Stankiewicz, Pawel |
| dc.contributor.author.none.fl_str_mv |
Glinton, Kevin E. Hurst, Anna C. E. Bowling, Kevin M. Cristian, Ingrid Haynes, Devon Adstamongkonkul, Dusit Schnappauf, Oskar Beck, David B. Brewer, Carole Parikh, Aditi Shah Shinde, Deepali N. Donaldson, Alan Brautbar, Ariel Koene, Saskia Haeringen, Arie van Piton, Amélie Capri, Yline Furlan, Margherita Gardella, Elena Møller, Rikke Steensbjerre de Beek, Irma van Zuurbier, Linda Lakeman, Phillis Bayat, Allan Martinez, Julian Signer, Rebecca Torring, Pernille M. Engelund, Morten Buch Gripp, Karen W. Amlie-Wolf, Louise Henderson, Lindsay B. Midro, Alina T. Tarasów, Eugeniusz Stasiewicz-Jarocka, Beata Moskal-Jasinska, Diana Vos, Paul Boschann, Felix Stoltenburg, Corinna Puk, Oliver Lise Mero, Inger Lossius, Kristine Mignot, Cyril Keren, Boris Acosta Guio, Johanna C. Briceño Balcázar, Ignacio Gómez, Alberto Yang, Yaping Stankiewicz, Pawel |
| dc.contributor.corporatename.none.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
| dc.contributor.javerianateacher.none.fl_str_mv |
Briceño Balcázar, Ignacio Gómez, Alberto |
| dc.subject.keyword.spa.fl_str_mv |
Chromatin remodeling Epilepsy Microcephaly |
| topic |
Chromatin remodeling Epilepsy Microcephaly |
| description |
Q3 |
| publishDate |
2021 |
| dc.date.accessioned.none.fl_str_mv |
2021-02-18T01:58:18Z |
| dc.date.available.none.fl_str_mv |
2021-02-18T01:58:18Z |
| dc.date.created.none.fl_str_mv |
2021-01-31 |
| dc.type.local.spa.fl_str_mv |
Artículo de revista |
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http://purl.org/coar/resource_type/c_6501 |
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http://purl.org/coar/resource_type/c_6501 |
| dc.identifier.spa.fl_str_mv |
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62102 |
| dc.identifier.issn.spa.fl_str_mv |
1552-4825 / 1552-4833 (Electrónico) |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/53007 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.1002/ajmg.a.62102 |
| dc.identifier.instname.spa.fl_str_mv |
instname:Pontificia Universidad Javeriana |
| dc.identifier.reponame.spa.fl_str_mv |
reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
| dc.identifier.repourl.spa.fl_str_mv |
repourl:https://repository.javeriana.edu.co |
| url |
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62102 http://hdl.handle.net/10554/53007 https://doi.org/10.1002/ajmg.a.62102 |
| identifier_str_mv |
1552-4825 / 1552-4833 (Electrónico) instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.citationstartpage.spa.fl_str_mv |
1345 |
| dc.relation.citationendpage.spa.fl_str_mv |
1637 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
American Journal of Medical Genetics, Part A |
| dc.relation.citationvolume.none.fl_str_mv |
185 |
| dc.relation.citationissue.none.fl_str_mv |
5 |
| dc.rights.licence.*.fl_str_mv |
Atribución-NoComercial 4.0 Internacional |
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http://creativecommons.org/licenses/by-nc/4.0/ |
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http://purl.org/coar/access_right/c_abf2 |
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Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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PDF |
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application/pdf |
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Pontificia Universidad Javeriana |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Glinton, Kevin E.Hurst, Anna C. E.Bowling, Kevin M.Cristian, IngridHaynes, DevonAdstamongkonkul, DusitSchnappauf, OskarBeck, David B.Brewer, CaroleParikh, Aditi ShahShinde, Deepali N.Donaldson, AlanBrautbar, ArielKoene, SaskiaHaeringen, Arie vanPiton, AmélieCapri, YlineFurlan, MargheritaGardella, ElenaMøller, Rikke Steensbjerrede Beek, Irma vanZuurbier, LindaLakeman, PhillisBayat, AllanMartinez, JulianSigner, RebeccaTorring, Pernille M.Engelund, Morten BuchGripp, Karen W.Amlie-Wolf, LouiseHenderson, Lindsay B.Midro, Alina T.Tarasów, EugeniuszStasiewicz-Jarocka, BeataMoskal-Jasinska, DianaVos, PaulBoschann, FelixStoltenburg, CorinnaPuk, OliverLise Mero, IngerLossius, KristineMignot, CyrilKeren, BorisAcosta Guio, Johanna C.Briceño Balcázar, IgnacioGómez, AlbertoYang, YapingStankiewicz, PawelPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaBriceño Balcázar, IgnacioGómez, Alberto2021-02-18T01:58:18Z2021-02-18T01:58:18Z2021-01-31https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.621021552-4825 / 1552-4833 (Electrónico)http://hdl.handle.net/10554/53007https://doi.org/10.1002/ajmg.a.62102instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengPhenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesArtículo de revistahttp://purl.org/coar/resource_type/c_6501Q3Q2Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF.https://orcid.org/0000-0001-7300-6401https://orcid.org/0000-0002-5592-3844Revista Internacional - No indexadaA2Chromatin remodelingEpilepsyMicrocephaly13451637American Journal of Medical Genetics, Part A1855ORIGINALBPTF phenotypic expansion (2021).pdfBPTF phenotypic expansion (2021).pdfArtículoapplication/pdf12026533http://repository.javeriana.edu.co/bitstream/10554/53007/1/BPTF%20phenotypic%20expansion%20%282021%29.pdf3fc5a5308018d66fe5eb1932819d9494MD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/53007/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILBPTF phenotypic expansion (2021).pdf.jpgBPTF phenotypic expansion (2021).pdf.jpgIM Thumbnailimage/jpeg13452http://repository.javeriana.edu.co/bitstream/10554/53007/3/BPTF%20phenotypic%20expansion%20%282021%29.pdf.jpg0c0c52ff17c57b96f09454fc5c2d5d95MD53open access10554/53007oai:repository.javeriana.edu.co:10554/530072023-03-10 18:26:35.099Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.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 |