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Results 1 - 3 of 3 for Multiple congenital "anomalies-hypotonia-seizures" syndrome 2
  1. PIGT gene 
    ... leading to the varied signs and symptoms of multiple congenital anomalies-hypotonia-seizures syndrome 3. ... Brodsky RA. Paroxysmal nocturnal hemoglobinuria without GPI-anchor deficiency. J Clin Invest. 2019 Dec 2;129(12):5074-5076. doi: 10.1172/JCI131647. ...
    https://medlineplus.gov/genetics/gene/pigt - Genetics
  2. Fryns syndrome 
    ... U. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital ... Nov 2. Citation on PubMed Moerman P, Fryns JP, Vandenberghe ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  3. PIGN gene 
    ... U. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital ... Nov 2. Citation on PubMed Slavotinek A. Fryns Syndrome. 2007 ...
    https://medlineplus.gov/genetics/gene/pign - Genetics