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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Autors principals: Christeen Ramane J. Pedurupillay, Erlend Christoffer Sommer Landsend, Magnus Dehli Vigeland, Muhammad Ansar, Eirik Frengen, Doriana Misceo, Petter Strømme
Format: Artigo
Idioma:Inglês
Publicat: MDPI AG 2016-07-01
Col·lecció:Genes
Matèries:
achromatopsia
alopecia
phosphodiesterase (PDE)
PDE6H
LPAR6
Accés en línia:http://www.mdpi.com/2073-4425/7/8/41
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