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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Intractable Rare Dis Res
Glavni autori: Lu, Yanqin, Dai, Yunzhang, Wang, Yanzhou, Zhai, Naixiang, Zhang, Jian, Liu, Junlong, Yin, Xiaoli, Li, Tianyou, Ren, Xiuzhi, Han, Jinxiang
Format: Artigo
Jezik:Inglês
Izdano: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2018
Teme:
Original Article
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items