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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9693321/
https://www.ncbi.nlm.nih.gov/pubmed/36363484
http://dx.doi.org/10.3390/medicina58111526

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9693321/
https://www.ncbi.nlm.nih.gov/pubmed/36363484
http://dx.doi.org/10.3390/medicina58111526

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