Haploinsufficiency of SF3B2 causes craniofacial microsomia

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Date
2021

Authors

Timberlake A.T.
Griffin C.
Heike C.L.
Hing A.V.
Cunningham M.L.
Chitayat D.
Davis M.R.
Doust S.J.
Drake A.F.
Duenas-Roque M.M.
Goldblatt J.
Gustafson J.A.
Hurtado Villa, Paula Margarita
Johns A.
Karp N.
Laing N.G.
Magee L.
Mullegama S.V.

Corporate Author(s)

Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
Pontificia Universidad Javeriana. Facultad de Medicina. Hospital Universitario San Ignacio

Type

Artículos

ISSN

2041-1723

COAR

Artículo de revista
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Resumen

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

Keywords

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

Link to the resource

https://www.nature.com/articles/s41467-021-24852-9

DOI

https://doi.org/10.1038/s41467-021-24852-9

URI

http://hdl.handle.net/10554/60077

Source

Nature Communications; Volumen 12 Número 1 , Páginas 4680 - 4680 (2021)
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Atribución-NoComercial 4.0 Internacional
Except where otherwise noted, this item's license is described as Atribución-NoComercial 4.0 Internacional