Condition: Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
rs121913105
in
FGFR3
gene and
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
PMID 10053006
1999 We refer to the phenotype caused by the
Lys650Met
mutation as "
severe achondroplasia with developmental delay and acanthosis nigricans
" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.
PMID 16912704
2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.