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

مواد مشابهة

• 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
  بواسطة: Neuhofer, Christiane M., وآخرون
  منشور في: (2020)
• Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)
  بواسطة: Jiao, Xianru, وآخرون
  منشور في: (2020)
• Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy
  بواسطة: Fleming, Leah, وآخرون
  منشور في: (2015)
• A PIGN Mutation Responsible for Multiple Congenital Anomalies–Hypotonia–Seizures Syndrome 1 (MCAHS1) in an Israeli–Arab Family
  بواسطة: Khayat, Morad, وآخرون
  منشور في: (2015)
• The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study
  بواسطة: Agrahari, Ashish Kumar, وآخرون
  منشور في: (2019)