Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)

OBJECTIVE: To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations. METHODS: Collecting clinical information of 17 patients with pathogenic variants in PIGN, PIGA, and PIGT. Genetic studies w...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Jiao, Xianru, Xue, Jiao, Gong, Pan, Bao, Xinhua, Wu, Ye, Zhang, Yuehua, Jiang, Yuwu, Yang, Zhixian
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7099766/
https://ncbi.nlm.nih.gov/pubmed/32220244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01365-0
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