Open AccessNovel RAB3GAP1 Mutation in the First Tunisian Family With Warburg Micro Syndrome
Author(s) -
Nesrine Kerkeni,
Maher Kharrat,
Faouzi Mâazoul,
Hela Boudabous,
Ridha Mrad,
Médiha Trabelsi
Publication year - 2022
Publication title -
journal of clinical neurology/the journal of clinical neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.208
H-Index - 45
eISSN - 2005-5013
pISSN - 1738-6586
DOI - 10.3988/jcn.2022.18.2.214
Subject(s) - genetics , microcephaly , exome sequencing , microphthalmia , frameshift mutation , genetic heterogeneity , hypotonia , global developmental delay , biology , phenotype , medical genetics , genetic counseling , medicine , gene