Variant: rs121908171 

    present in Gene: RAB23
    present in Chromosome: 6
    Position on Chromosome: 57194817
    Alleles of this Variant: A/T

rs121908171 in RAB23 gene and Acrocephalopolysyndactyly type 2 PMID 21412941 2011 Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

PMID 17503333 2007 RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity.

PMID 24458945 2014 Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

rs121908171 in RAB23 gene and Multiple congenital anomalies PMID 25168863 2014 Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

PMID 3322002 1987 Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.

PMID 20358613 2010 RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.

PMID 21412941 2011 Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

PMID 3993675 1985 Carpenter syndrome: natural history and clinical spectrum.

PMID 15129947 2004 The carpenter syndrome phenotype.