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Whole genome sequencing identifies a novel occludin mutation in microcephaly with band‐like calcification and polymicrogyria that extends the phenotypic spectrum
Author(s) -
Elsaid Mahmoud F.,
Kamel Hussein,
Chalhoub Nader,
Aziz Nahla Abdel,
Ibrahim Khalid,
BenOmran Tawfeg,
George Binu,
AlDous Eman,
Mohamoud Yasmin,
Malek Joel A.,
Ross M. Elizabeth,
Aleem Alice Abdel
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36485
Subject(s) - microcephaly , phenotype , mutation , biology , polymicrogyria , genetics , whole genome sequencing , genome , computational biology , gene , neuroscience , epilepsy