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

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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Bibliographic Details
Main Authors: Verity Hartill, Katarzyna Szymanska, Saghira Malik Sharif, Gabrielle Wheway, Colin A. Johnson
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-11-01
Series:Frontiers in Pediatrics
Subjects:
Meckel–Gruber syndrome
renal cystic dysplasia
oligohydramnios
primary cilium
transition zone
Shh signaling
Online Access:http://journal.frontiersin.org/article/10.3389/fped.2017.00244/full

Internet

http://journal.frontiersin.org/article/10.3389/fped.2017.00244/full

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