Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium. Conditions that are caused by mutations in ciliary genes are collectively termed the ciliopathie...

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Detalles Bibliográficos
Publicado en:Front Pediatr
Main Authors: Hartill, Verity, Szymanska, Katarzyna, Sharif, Saghira Malik, Wheway, Gabrielle, Johnson, Colin A.
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2017
Assuntos:
Pediatrics
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701918/
https://ncbi.nlm.nih.gov/pubmed/29209597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2017.00244
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