Associated Papers
Expanding the Phenotype of STAMBP-Related Microcephaly-Capillary Malformation Syndrome.
Gowda VK et al.
American Journal of Medical Genetics. Part A, 2026
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf
Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by disrupting cortical proliferation.
Hu M et al.
Frontiers in Neuroscience, 2022
[Resistant epileptic encephalopathy in a child with microcephalic capillary malformation syndrome].
Shchugareva LM et al.
Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2020
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
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
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
McDonell LM et al.
Nature Genetics, 2013
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