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MECKEL SYNDROME, TYPE 4

Known as: MKS4, Meckel-Gruber Syndrome, Type 4 
National Institutes of Health

Related topics

Related topics

12 relations
Autosomal recessive inheritanceBile duct proliferationCEP290 geneDuctal plate malformation

Broader (4)

Congenital cerebral herniaLiverPolycystic Kidney DiseasesPolydactyly

Papers overview

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2019
2019
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome
Meckel syndrome (MKS) is a pre‐ or perinatal multisystemic ciliopathic lethal disorder with an autosomal recessive mode of… 
2012
2012
Earliest ultrasound findings and description of splicing mutations in Meckel–Gruber syndrome
ObjectiveTo describe early ultrasound findings in Meckel–Gruber syndrome (MKS) in first and second trimester of three families… 
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