Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome

Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. Most affected individuals also have Hirschsprung disease and/or gyral abnormalities of the...

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Detalles Bibliográficos
Autores principales: SALEHPOUR, Shadab, HASHEMI-GORJI, Feyzollah, SOLTANI, Ziba, GHAFOURI-FARD, Soudeh, MIRYOUNESI, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5329763/
https://www.ncbi.nlm.nih.gov/pubmed/28277559

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