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
Autores principales: Hartill, Verity, Szymanska, Katarzyna, Sharif, Saghira Malik, Wheway, Gabrielle, Johnson, Colin A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2017
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701918/
https://www.ncbi.nlm.nih.gov/pubmed/29209597
http://dx.doi.org/10.3389/fped.2017.00244

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701918/
https://www.ncbi.nlm.nih.gov/pubmed/29209597
http://dx.doi.org/10.3389/fped.2017.00244

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