thanatophoric dysplasia type 1
MIM.187600
TD1
Associations
bilateral non-obstructive renal dysplasia (BNORD) (17375526)
See also
thanatophoric dysplasias
- thanatophoric dysplasia type 2 (TD2) (thanatophoric dysplasia with cloverleaf skull) (MIM.187601)
References
Prontera P, Sensi A, Pilu G, Baldi M, Baffico M, Bonasoni R, Calzolari E. FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? Genet Couns. 2006;17(4):407-12. PMID: 17375526