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The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
Couser NL, Masood MM, Strande NT, Foreman AK, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. Couser NL, et al. Am J Med Genet A. 2015 Sep;167A(9):2176-81. doi: 10.1002/ajmg.a.37129. Epub 2015 Apr 29. Am J Med Genet A. 2015. PMID: 25920937 Free PMC article.
The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described in two families to date. ...
The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described …
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
Siavrienė E, Maldžienė Ž, Mikštienė V, Petraitytė G, Rančelis T, Dapkūnas J, Burnytė B, Benušienė E, Sasnauskienė A, Grikinienė J, Griškevičiūtė E, Utkus A, Preikšaitienė E. Siavrienė E, et al. Medicina (Kaunas). 2022 Oct 26;58(11):1526. doi: 10.3390/medicina58111526. Medicina (Kaunas). 2022. PMID: 36363484 Free PMC article.
Background and Objectives: Pathogenic variants of PIGN are a known cause of multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). ...
Background and Objectives: Pathogenic variants of PIGN are a known cause of multiple congenital anomalies-hypotonia …