Complex heterozygous WNT1 mutation in severe recessive osteogenesis imperfecta of a Chinese patient

Osteogenesis imperfecta (OI) is a heritable connective tissue disorder with a predominately autosomal-dominant inheritance pattern. Recessive forms of OI are rare and involve many different causative genes. WNT1 mutations were found to cause either autosomal-recessive OI or dominantly inherited earl...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Intractable Rare Dis Res
Main Authors: Lu, Yanqin, Dai, Yunzhang, Wang, Yanzhou, Zhai, Naixiang, Zhang, Jian, Liu, Junlong, Yin, Xiaoli, Li, Tianyou, Ren, Xiuzhi, Han, Jinxiang
Formato: Artigo
Idioma:Inglês
Publicado em: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2018
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5849620/
https://ncbi.nlm.nih.gov/pubmed/29552441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2018.01014
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados