Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2

EFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Letard, Pascaline, Schepers, Dorien, Albuisson, Juliette, Bruneval, Patrick, Spaggiari, Emmanuel, Van de Beek, Gerarda, Khung-Savatovsky, Suonavy, Belarbi, Nadia, Capri, Yline, Delezoide, Anne-Lise, Loeys, Bart, Guimiot, Fabien
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2018
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6103346/
https://ncbi.nlm.nih.gov/pubmed/30140196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000489838
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