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Further clinical delineation of microcephaly-capillary malformation syndrome.
Postma JK, Zambonin JL, Khouj E, Alyamani S, Graham JM Jr, Alkuraya FS, Kundell S, Carter MT. Postma JK, et al. Am J Med Genet A. 2022 Nov;188(11):3350-3357. doi: 10.1002/ajmg.a.62936. Epub 2022 Aug 13. Am J Med Genet A. 2022. PMID: 35962715
Microcephaly-Capillary Malformation syndrome (MIC-CAP) is a rare genetic disorder reported in 18 individuals to date. ...
Microcephaly-Capillary Malformation syndrome (MIC-CAP) is a rare genetic disorder reported in 18 individuals to …
Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
Naseer MI, Sogaty S, Rasool M, Chaudhary AG, Abutalib YA, Walker S, Marshall CR, Merico D, Carter MT, Scherer SW, Al-Qahtani MH, Zarrei M. Naseer MI, et al. Am J Med Genet A. 2016 Nov;170(11):3018-3022. doi: 10.1002/ajmg.a.37845. Epub 2016 Aug 17. Am J Med Genet A. 2016. PMID: 27531570
Through exome sequencing, we uncovered a homozygous missense variant in STAMBP (p.K303R) in the two siblings, inherited from heterozygous carrier parents. Mutations in STAMBP are known to cause microcephaly-capillary malformation syndrome (MIC-CAP) and …
Through exome sequencing, we uncovered a homozygous missense variant in STAMBP (p.K303R) in the two siblings, inherited from heterozygous ca …
Recent advances in the genetic etiology of brain malformations.
Dyment DA, Sawyer SL, Warman-Chardon J, Boycott KM. Dyment DA, et al. Curr Neurol Neurosci Rep. 2013 Aug;13(8):364. doi: 10.1007/s11910-013-0364-1. Curr Neurol Neurosci Rep. 2013. PMID: 23793931 Review.
Recent discoveries highlight new associations of biological processes with human disease including the PI3K-AKT-mTOR pathway in brain overgrowth syndromes, the trafficking of cellular proteins in microcephaly-capillary malformation syndrome, and the ro …
Recent discoveries highlight new associations of biological processes with human disease including the PI3K-AKT-mTOR pathway in brain overgr …
Novel STAMBP mutation and additional findings in an Arabic family.
Faqeih EA, Bastaki L, Rosti RO, Spencer EG, Zada AP, Saleh MA, Um K, Gleeson JG. Faqeih EA, et al. Am J Med Genet A. 2015 Apr;167A(4):805-9. doi: 10.1002/ajmg.a.36782. Epub 2015 Feb 18. Am J Med Genet A. 2015. PMID: 25692795
Microcephaly-capillary malformation syndrome (MIC-CAP syndrome) is a newly recognized autosomal recessive congenital neurocutaneous central nervous system disorder characterized by severe microcephaly, early-onset seizures, profound psychomotor disabil …
Microcephaly-capillary malformation syndrome (MIC-CAP syndrome) is a newly recognized autosomal recessive congen …