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thanatophoric dysplasia type 1

MIM.187600

Wednesday 23 May 2007

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