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Exome sequencing overrides formal genetics: ASPM mutations in a case study of apparent X‐linked microcephalic intellectual deficit
Author(s) -
Ariani F,
Mari F,
Amitrano S,
Di Marco C,
Artuso R,
Scala E,
Meloni I,
Della Volpe R,
Rossi A,
Bokhoven H,
Renieri A
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2012.01901.x
Subject(s) - microcephaly , brother , pediatrics , medicine , anencephaly , sister , intellectual disability , corpus callosum , genetics , anatomy , biology , pregnancy , psychiatry , fetus , sociology , anthropology