Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan

We report on two brothers with visual impairment, and non-syndromic alopecia in the elder proband. The parents were first-degree Pakistani cousins. Whole exome sequencing of the elder brother and parents, followed by Sanger sequencing of all four family members, led to the identification of the vari...

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Detalles Bibliográficos
Autores principales: Pedurupillay, Christeen Ramane J., Landsend, Erlend Christoffer Sommer, Vigeland, Magnus Dehli, Ansar, Muhammad, Frengen, Eirik, Misceo, Doriana, Strømme, Petter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999829/
https://www.ncbi.nlm.nih.gov/pubmed/27472364
http://dx.doi.org/10.3390/genes7080041

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4999829/
https://www.ncbi.nlm.nih.gov/pubmed/27472364
http://dx.doi.org/10.3390/genes7080041

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