Schaaf-Yang Syndrome: A Real Challenge for Prenatal Diagnosis

Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by pathogenic variants in the MAGEL2 gene. It is usually a postnatal diagnosis in infants with muscular hypotonia and feeding difficulties. There are no cases diagnosed antenatally. During pregnancy, the most common findings rep...

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Detalles Bibliográficos
Autores principales: Nunes, Sara, Xavier, Marta, Lourenço, Cátia, Melo, Mónica, Godinho, Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8757634/
https://www.ncbi.nlm.nih.gov/pubmed/35047255
http://dx.doi.org/10.7759/cureus.20414

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8757634/
https://www.ncbi.nlm.nih.gov/pubmed/35047255
http://dx.doi.org/10.7759/cureus.20414

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