Condition: EAR, PATELLA, SHORT STATURE SYNDROME
rs387906917 in
CDT1 gene and
EAR, PATELLA, SHORT STATURE SYNDROME
PMID 22333897 2012 Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
PMID 23023959 2012 Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
PMID 21358632 2011 Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
rs864309486 in
GMNN gene and
EAR, PATELLA, SHORT STATURE SYNDROME
PMID 26637980 2015 De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
rs143141689 in
ORC1 gene and
EAR, PATELLA, SHORT STATURE SYNDROME
PMID 23516378 2013 Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
PMID 25689043 2015 Recent studies have identified several genetic mutations within the BAH domain of human Origin Recognition Complex subunit 1 (hORC1BAH), including the R105Q mutation, implicated in Meier-Gorlin Syndrome (MGS).
PMID 22855792 2012 Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication.
PMID 22333897 2012 Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
PMID 21358633 2011 Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.