Associated Papers
Expanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome.
Gowda VK et al.
American Journal of Medical Genetics. Part A, 2026
Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by disrupting cortical proliferation.
Hu M et al.
Frontiers in Neuroscience, 2022
Early‑onset epilepsy and microcephaly‑capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy.
Wu F et al.
Molecular Medicine Reports, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.
Hori I et al.
Journal of Human Genetics, 2018
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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