A carregar...
Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene
RATIONALE: The Schaaf-Yang syndrome (SYS) is an autosomal dominant multi-system genetic disease caused by melanoma antigen L2 (MAGEL2) gene mutations imprinted by mothers and expressed by fathers on the 15q11–15q13 chromosomes in the critical region of Prader-Willi. MAGEL2 is a single exon gene and...
Na minha lista:
| Publicado no: | Medicine (Baltimore) |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2021
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8213290/ https://ncbi.nlm.nih.gov/pubmed/34128869 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000026309 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|