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

Agha, Z., Iqbal, Z., Azam, M., Siddique, M., Willemse, M.H., Kleefstra, T., Zweier, C., de Leeuw, N., Qamar, R. and van Bokhoven, H. Gene, 538:30-35: (2014).