Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance

BACKGROUND: Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in relatives...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Dworschak, Gabriel C., Zwink, Nadine, Schmiedeke, Eberhard, Mortazawi, Kiarasch, Märzheuser, Stefanie, Reinshagen, Konrad, Leonhardt, Johannes, Gómez, Barbara, Volk, Patrick, Rißmann, Anke, Jenetzky, Ekkehart, Reutter, Heiko
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5729416/
https://ncbi.nlm.nih.gov/pubmed/29237507
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0729-7
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados