Haploinsufficiency of SF3B2 causes craniofacial microsomia

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, identifying a highly significant burden of loss of function varian...

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Autores:

Timberlake, Andrew T.
Griffin, Casey
Heike, Carrie L.
Hing, Anne V.
Cunningham, Michael L.
Chitayat, David
Davis, Mark R.
Doust, Soghra J.
Drake, Amelia F.
Duenas-Roque, Milagros M.
Goldblatt, Jack
Gustafson, Jonas A.
Hurtado-Villa, Paula
Johns, Alexis
Karp, Natalya
Laing, Nigel G.
Magee, Leanne
University of Washington Center for Mendelian Genomics
Mullegama, Sureni V.
Pachajoa, Harry
Porras-Hurtado, Gloria L.
Schnur, Rhonda E.
Slee, Jennie
Singer, Steven L.
Staffenberg, David A.
Timms, Andrew E.
Wise, Cheryl A.
Zarante, Ignacio
Saint-Jeannet, Jean-Pierre
Luquetti, Daniela V.

Tipo de recurso:

Article of journal

Fecha de publicación:

2021

Institución:

Pontificia Universidad Javeriana

Repositorio:

Repositorio Universidad Javeriana

Idioma:

OAI Identifier:

oai:repository.javeriana.edu.co:10554/60077

Acceso en línea:

https://www.nature.com/articles/s41467-021-24852-9
http://hdl.handle.net/10554/60077
https://doi.org/10.1038/s41467-021-24852-9

Palabra clave:

Rna Splicing Factor
Sf3B2 Protein, Human
Adolescent
Adult
Animal
Child
Exome
Female
Genetic Association Study
Genetics
Goldenhar Syndrome
Growth, Development And Aging
Haploinsufficiency
Human
Infant
Male
Mutation
Neural Crest
Pathology

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