Novel STAMBP mutations in a Chinese girl with rare symptoms of microcephaly-capillary malformation syndrome and Mowat-Wilson syndrome
Author:
Publisher
Elsevier BV
Subject
Multidisciplinary
Reference10 articles.
1. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome;McDonell;Nat. Genet.,2013
2. The microcephaly-capillary malformation syndrome;Mirzaa;Am. J. Med. Genet.,2011
3. Earlyonset epilepsy and microcephalycapillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy;Wu;Mol. Med. Rep.,2019
4. Further clinical delineation of microcephaly-capillary malformation syndrome;Postma;Am. J. Med. Genet.,2022
5. Novel compound heterozygous mutation in STAMBP causes a neurodevelopmental disorder by disrupting cortical proliferation;Hu;Front. Neurosci.,2022
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1. AAV-mediated Stambp gene replacement therapy rescues neurological defects in a mouse model of microcephaly-capillary malformation syndrome;Molecular Therapy;2024-08
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