The phenotypic and molecular genetic spectrum of Alström Syndrome in 44 Turkish kindreds and a literature review of Alström Syndrome in Turkey

Alström Syndrome is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure, and systemic fibrosis. Alström Syndrome is caused...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Hum Genet
Main Authors: Ozantürk, Ayşegül, Marshall, Jan D, Collin, Gayle B, Düzenli, Selma, Marshall, Robert P, Candan, Şükrü, Tos, Tülay, Esen, İhsan, Taşkesen, Mustafa, Çayır, Atilla, Öztürk, Şükrü, Üstün, İhsan, Ataman, Esra, Karaca, Emin, Özdemir, Taha Reşid, Erol, İlknur, Eroğlu, Fehime Kara, Torun, Deniz, Parıltay, Erhan, Yılmaz-Güleç, Elif, Karaca, Ender, Atabek, M. Emre, Elçioğlu, Nursel, Satman, İlhan, Möller, Claes, Müller, Jean, Naggert, Jürgen K, Özgül, Rıza Köksal
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5460767/
https://ncbi.nlm.nih.gov/pubmed/25296579
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2014.85
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados