Condition: Lacrimoauriculodentodigital syndrome


rs104893886 in FGF10 gene and Lacrimoauriculodentodigital syndrome PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 16630169 2006 LADD syndrome is caused by FGF10 mutations.

rs104893885 in FGF10;FGF10-AS1 gene and Lacrimoauriculodentodigital syndrome PMID 16630169 2006 LADD syndrome is caused by FGF10 mutations.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

rs121918508 in FGFR2 gene and Lacrimoauriculodentodigital syndrome PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 18056630 2007 Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.

rs121913112 in FGFR3 gene and Lacrimoauriculodentodigital syndrome PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.