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Type: Outros documentos
Title: Beemer-langer syndrome is a ciliopathy due to biallelic mutations in IFT122
Author: Silveira, Karina C.
Moreno, Carolina A.
Cavalcanti, Denise P.
Abstract: Since most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer syndrome
Subject: Edema
Country: Estados Unidos
Editor: John Wiley & Sons
Rights: Fechado
Identifier DOI: 10.1002/ajmg.a.38157
Date Issue: 2017
Appears in Collections:FCM - Artigos e Outros Documentos

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