3[3]Morgan NV,Bacchelli C,Gissen P.A locus for asphyxiating thoracic dystrophy,ATD,maps to chromosome 15q13.J Med Genet,2003,40(6):431-435
4[4]Friedman JM,Kaplan HG,Hall JG.The Jeune syndrome(asphyxiating thoracic dystrophy) in an adult.Am J Med,1975,59(6):857-862
5[9]Turkel SB,Diehl EJ,Richmond JA.Necropsy findings in neonatal asphyxiating thoracic dystrophy.J Med Genet,1985,22(2):112-118
6[10]Kozlowski K,Masel J.Asphyxiating thoracic dystrophy without respiratory disease:report of two cases of the latent form.Pediatr Radiol,1976,5 (1):30-33
7[11]Ring E,Zobel G,Ratschek M,et al.Retrospective diagnosis of Jeune's syndrome in two patients with chronic renal failure.Child Nephrol Urol,1990,10 (2):88-91
1Jeune M, Beraud C,Carron R. Asphyxiating thoracic dystrophy with familial characteristics [ J ]. Arch Fr Pediatr, 1955,12 ( 8 ) :886 - 891.
2Uqar S,Zorlu P, Sahin G, et al. Jeune syndrome (asphyxiating thoracic dystrophy ) : A case report [ J ]. Tuberk Toraks ,2009,57 (4) :413 -416.
3Dagoneau N, Goulet M, Genevieve D, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib - polydactyly syndrome, type Ⅲ[ [ J ]. Am JHum Genet,2009,84 ( 5 ) :706 - 711.
4Beales PL, Bland E, Tobin JL, et al. IFT80, which encodes a conserved intraflagellar transport protein,is mutated in Jeune asphyxiating thoracic dystrophy[J]. Nat Genet,2007,39(6) :727 -729.
5ltuang W,Kane JK,Li MD. Identification and characterization of a long isoform of human IFT80, IFT80 -L[ J ]. Biochem Biophys Res Commun, 2008,373 (4) :653 - 658.
6Hudak LM, Lunt S,Chang CH,et al. The intraflagellar transport protein lft80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy [ J ]. Invest Ophthalmol Vis Sci,2010,51 (7) :3792 -3799.
7Morgan NV, Bacchelli C, Gissen P. A Incus for asphyxiating thoracic dys- trophy,ATD, maps to chromosome 15q13 [ J ]. J Med C, enet , 2003,40 (6) :413 -415.
8de Vries J, Ynteroa JL, van Die CE,et al. Jeune syndrome : Description of 13 cases and a proposal for follow - up protocol [ J ]. Eur J Pediatr, 2010,169(1) :77 -88.
9Tuystiz B, Baris S, Aksoy F, et al. Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome:Evaluation and classification of 13 patients[ J]. Am J Med Genet A ,2009,149(8 ) : 1727 - 1733.
10Jeune M,Beraud C,Carron R. Asphyxiating thoracic dystrophy with familial characteristics[J].{H}Archives Francaises de Pediatrie,1955,(8):886-891.
