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Article

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

Orphanet journal of rare diseases - 27 Mar 2020

Jiao Xianru, Xue Jiao, Gong Pan, Bao Xinhua, Wu Ye, Zhang Yuehua, Jiang Yuwu, Yang Zhixian

Abstract excerpt

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 were performed on all patients. RESULTS: There were 7 patients with 15 PIGN mutations (one patient carrying 3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32220244
DOI: 10.1186/s13023-020-01365-0
PMCID: PMC7099766

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