A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia

Podobné jednotky

• Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22
  Autor: Schnabel, Franziska, a další
  Vydáno: (2018)
• A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia‐seizures syndrome 2 (MCAHS2) family pedigree via whole‐exome sequencing
  Autor: Yang, Junli, a další
  Vydáno: (2018)
• Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)
  Autor: Jiao, Xianru, a další
  Vydáno: (2020)
• De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
  Autor: Ufartes, Roser, a další
  Vydáno: (2020)
• Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy
  Autor: Fleming, Leah, a další
  Vydáno: (2015)