PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation

PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation

<i>Background and Objectives</i>: Pathogenic variants of <i>PIGN</i> 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 dev...

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Main Authors: Evelina Siavrienė, Živilė Maldžienė, Violeta Mikštienė, Gunda Petraitytė, Tautvydas Rančelis, Justas Dapkūnas, Birutė Burnytė, Eglė Benušienė, Aušra Sasnauskienė, Jurgita Grikinienė, Eglė Griškevičiūtė, Algirdas Utkus, Eglė Preikšaitienė
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Medicina
Subjects:
<i>PIGN</i>
compound heterogeneous variants
multiple congenital anomalies-hypotonia-seizures syndrome 1
Fryns syndrome
congenital anomalies
Online Access:https://www.mdpi.com/1648-9144/58/11/1526

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