Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome

Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wilson syndrome is characterized by typical facial f...

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Detalles Bibliográficos
Autores principales: Jakubiak, Aleksandra, Szczałuba, Krzysztof, Badura-Stronka, Magdalena, Kutkowska-Kaźmierczak, Anna, Jakubiuk-Tomaszuk, Anna, Chilarska, Tatiana, Pilch, Jacek, Braun-Walicka, Natalia, Castaneda, Jennifer, Wołyńska, Katarzyna, Wiśniewska, Marzena, Kugaudo, Monika, Bielecka, Monika, Pesz, Karolina, Wierzba, Jolanta, Latos-Bieleńska, Anna, Obersztyn, Ewa, Krajewska-Walasek, Małgorzata, Śmigiel, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Human Genetics • Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8357696/
https://www.ncbi.nlm.nih.gov/pubmed/33982229
http://dx.doi.org/10.1007/s13353-021-00636-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8357696/
https://www.ncbi.nlm.nih.gov/pubmed/33982229
http://dx.doi.org/10.1007/s13353-021-00636-1

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