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Absence of microcephalin gene mutations in a large cohort of non‐consanguineous patients with autosomal recessive primary microcephaly
Author(s) -
Scala Iris,
Titomanlio Luigi,
Del Giudice Ennio,
Passemard Sandrine,
Figliuolo Chiara,
Annunziata Patrizia,
Granese Barbara,
Scarpato Elena,
Verloes Alain,
Andria Generoso
Publication year - 2010
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.33672
Subject(s) - microcephaly , genetics , consanguinity , gene , cohort , medicine , consanguineous marriage , pediatrics , mutation , biology