Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing
American Journal of Medical Genetics Part A (2016) - Comments
pubmed: 27531570  doi: 10.1002/ajmg.a.37845  issn: 1552-4825  issn: 1552-4833 

Muhammad Imran Naseer, Sameera Sogaty, Mahmood Rasool, Adeel G. Chaudhary, Yousif Ahmed Abutalib, Susan Walker, Christian R. Marshall, Daniele Merico, Melissa T. Carter, Stephen W. Scherer, Mohammad H. Al-Qahtani, Mehdi Zarrei