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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med. 2023 Jan;25(1):37-48. doi: 10.1016/j.gim.2022.09.007. Epub 2022 Nov 2.
Genet Med. 2023.
PMID: 36322149
Free article.
PURPOSE: Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure syndrome (MCAHS), and neurologic phenotypes. ...RESULTS: Biallelic-truncating variants were detected in 16 patients-10 with Fryns …
PURPOSE: Biallelic PIGN variants have been described in Fryns syndrome, multiple congenital anomalies-hypotonia-seizure …
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, Bodurtha J, Hoover-Fong J, Cohn R, Bosemani T, Barañano K, Hamosh A.
Fleming L, et al.
Am J Med Genet A. 2016 Jan;170A(1):77-86. doi: 10.1002/ajmg.a.37369. Epub 2015 Sep 23.
Am J Med Genet A. 2016.
PMID: 26394714
Free PMC article.
Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. ...The severity of the presentations in conjunction …
Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glyco …
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