Ontology highlight
ABSTRACT:
SUBMITTER: Zhang M
PROVIDER: S-EPMC4503111 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
International journal of clinical and experimental pathology 20150501 5
Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Genetic heterogeneity has been demonstrated at eleven loci, MKS1-11. Here, we present the clinical and molecular characteristics of a Chinese MKS3 family with occipital encephalocele and kidney enlargement. DNA sequencing ...[more]