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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

✍ Scribed by Agha, Zehra; Iqbal, Zafar; Azam, Maleeha; Siddique, Maimoona; Willemsen, Marjolein H.; Kleefstra, Tjitske; Zweier, Christiane; de Leeuw, Nicole; Qamar, Raheel; van Bokhoven, Hans

Book ID: 121482045
Publisher: Elsevier Science
Year: 2014
Tongue: English
Weight: 831 KB
Volume: 538
Category: Article
ISSN: 0378-1119
DOI: 10.1016/j.gene.2014.01.027

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