Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family

Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a rare and severe disorder characterized by functional obstruction in the urinary and gastrointestinal tract. The molecular basis of this condition has been defined recently. Heterozygous variants in ACTG2, homozygous mutations in...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Qin, Zhang, Jianming, Wang, Hui, Feng, Qing, Luo, Fuwei, Xie, Jiansheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760584/
https://www.ncbi.nlm.nih.gov/pubmed/31427716
http://dx.doi.org/10.1038/s10038-019-0651-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760584/
https://www.ncbi.nlm.nih.gov/pubmed/31427716
http://dx.doi.org/10.1038/s10038-019-0651-z

Ejemplares similares