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...

Descripción completa

Detalles Bibliográficos
Autores principales: Jiao, Xianru, Xue, Jiao, Gong, Pan, Bao, Xinhua, Wu, Ye, Zhang, Yuehua, Jiang, Yuwu, Yang, Zhixian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099766/
https://www.ncbi.nlm.nih.gov/pubmed/32220244
http://dx.doi.org/10.1186/s13023-020-01365-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7099766/
https://www.ncbi.nlm.nih.gov/pubmed/32220244
http://dx.doi.org/10.1186/s13023-020-01365-0

Ejemplares similares