Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

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

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

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