Article
PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.
Medicina (Kaunas, Lithuania) - 26 Oct 2022
Siavrienė Evelina, Maldžienė Živilė, Mikštienė Violeta, Petraitytė Gunda, Rančelis Tautvydas, Dapkūnas Justas, Burnytė Birutė, Benušienė Eglė, Sasnauskienė Aušra, Grikinienė Jurgita, Griškevičiūtė Eglė, Utkus Algirdas, Preikšaitienė Eglė
Abstract excerpt
Background and Objectives: Pathogenic variants of PIGN are a known cause of multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1). Many affected individuals have clinical features overlapping with Fryns syndrome and are mainly characterised by developmental delay, congenital anomalies, hypotonia, seizures, and specific minor facial anomalies. This study investigates the clinical and molecular data...
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