Phenotypic spectrum and genetic analysis in the fatal cases of Schaaf-Yang syndrome: Two case reports and literature review

RATIONALE: Schaaf-Yang syndrome, a rare imprinted hereditary disease caused by MAGEL2 variants, manifests as developmental delay/intellectual disability, neonatal hypotonia, feeding difficulties, contractures, and autism spectrum disorder. PATIENT CONCERNS: Patient 1 and 2 were infant girls presenti...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Xuefei, Ma, Xiaolu, Zou, Chaochun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373511/
https://www.ncbi.nlm.nih.gov/pubmed/32702813
http://dx.doi.org/10.1097/MD.0000000000020574

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373511/
https://www.ncbi.nlm.nih.gov/pubmed/32702813
http://dx.doi.org/10.1097/MD.0000000000020574

Ejemplares similares