Condition: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
rs397514464
in
PDE4D
gene and
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
PMID 22464250
2012 Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
PMID 23043190
2012 PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
PMID 23033274
2013 Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.
PMID 22464252
2012 Exome sequencing identifies PDE4D mutations in acrodysostosis.