Výsledky vyhledávání - "H B, Chaabouni"

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family

Autor: M, Chograni, F S, Alkuraya, I, Ourteni, F, Maazoul, I, Lariani, H B, Chaabouni

Publikováno v: Clinical genetics. 88(3)

The aim of this study is to investigate the genetic basis of autosomal recessive congenital cataract and intellectual disability phenotype in a consanguineous Tunisian family. The whole genome scan of the studied family was performed with single nucl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2865c85b4660e05f1c639804e8eb8345
https://pubmed.ncbi.nlm.nih.gov/25358429

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