A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family

Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is a rare non-syndromic limb malformation with autosomal recessive inheritance. To date, only a few affected families with MSSD who had BHLHA9 mutations have been reported. The present report describes a consanguineous Pakistani family...

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Detalles Bibliográficos
Autores principales: Khan, Amjad, Wang, Rongrong, Han, Shirui, Ahmad, Wasim, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729216/
https://www.ncbi.nlm.nih.gov/pubmed/29263794
http://dx.doi.org/10.1038/hgv.2017.54

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729216/
https://www.ncbi.nlm.nih.gov/pubmed/29263794
http://dx.doi.org/10.1038/hgv.2017.54

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