1 th the clinical diagnosis of Jeune syndrome (asphyxiating thoracic dystrophy).

2 solated nephronophthisis and syndromic Jeune asphyxiating thoracic dystrophy.

3                                        Jeune asphyxiating thoracic dystrophy, an autosomal recessive

4   Short-rib polydactyly syndromes (SRPS) and Asphyxiating thoracic dystrophy (ATD) or Jeune Syndrome

5 ed to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeun

6 t IFT80 mutations underlie a subset of Jeune asphyxiating thoracic dystrophy cases, establishing the

7               Mutations in IFT80 cause Jeune asphyxiating thoracic dystrophy (JATD) and short rib pol

8                                        Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dys

9                                      Jeune's asphyxiating thoracic dystrophy (JATD) is an autosomal r

10 duals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD).

11 we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant