A complex microcephaly syndrome in a Pakistani family...

Gene 2014 / 03 Vol. 538; Iss. 1

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1

Agha, Zehra, Iqbal, Zafar, Azam, Maleeha, Siddique, Maimoona, Willemsen, Marjolein H., Kleefstra, Tjitske, Zweier, Christiane, de Leeuw, Nicole, Qamar, Raheel, van Bokhoven, Hans
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Volume:
538
Language:
english
Journal:
Gene
DOI:
10.1016/j.gene.2014.01.027
Date:
March, 2014
File:
PDF, 831 KB
english, 2014
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