Variant: rs397518483 

    present in Gene: RARB
    present in Chromosome: 3
    Position on Chromosome: 25596428
    Alleles of this Variant: C/A;T

rs397518483 in RARB gene and MICROPHTHALMIA, SYNDROMIC 12 PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

rs397518483 in RARB gene and Movement Disorders PMID 27120018 2016 Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

PMID 25457163 2015 Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

PMID 22318625 2012 Retinoic acid signalling during development.

PMID 17506106 2007 The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

rs397518483 in RARB gene and Multiple congenital anomalies PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 17506106 2007 The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

PMID 27120018 2016 Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

PMID 25457163 2015 Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

PMID 22318625 2012 Retinoic acid signalling during development.

rs397518483 in RARB gene and Muscle hypotonia PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 22318625 2012 Retinoic acid signalling during development.

PMID 27120018 2016 Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

PMID 25457163 2015 Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

PMID 17506106 2007 The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.