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A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1.
scientific article published on 16 January 2014
Author/s
author: Zafar Iqbal, Maimoona Siddique, Christiane Zweier, Hans van Bokhoven, Tjitske Kleefstra, Marjolein H Willemsen, Nicole de Leeuw
Work details
Publication date
January 16, 2014
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Language
English
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