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LADD syndrome

MIM.149730 5p13-p12

Wednesday 28 March 2007

Etiology

LADD syndrome is caused by heterozygous mutations in t
- tyrosine kinase domains of the genes encoding several fibroblast growth factor receptors (FGFRs)

- FGF10 gene (MIM.602115), which encodes an FGFR ligand