Associated Papers
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
Naseer MI et al.
American Journal of Medical Genetics. Part A, 2016
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
McDonell LM et al.
Nature Genetics, 2013
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