Variant: rs1555815121

present in Gene: FAM20A;PRKAR1A present in Chromosome: 17 Position on Chromosome: 68530306 Alleles of this Variant: C/T

rs1555815121 in FAM20A;PRKAR1A gene and ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE PMID 23043190 2012 PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

PMID 22464252 2012 Exome sequencing identifies PDE4D mutations in acrodysostosis.

PMID 23425300 2013 Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

rs1555815121 in FAM20A;PRKAR1A gene and Cone-shaped epiphysis PMID 22464252 2012 Exome sequencing identifies PDE4D mutations in acrodysostosis.

PMID 23425300 2013 Novel mutations of the PRKAR1A gene in patients with acrodysostosis.

PMID 23043190 2012 PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

rs1555815121 in FAM20A;PRKAR1A gene and Short phalanx of finger PMID 22464252 2012 Exome sequencing identifies PDE4D mutations in acrodysostosis.

PMID 23043190 2012 PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

PMID 23425300 2013 Novel mutations of the PRKAR1A gene in patients with acrodysostosis.