Condition: Short phalanx of finger
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.