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