[1]Brunetti-Pierri N, Andreucci MV, Tuzzi R, et al. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med Genet A, 2003, 117A(2): 164-168
[2]Vrecˇar I, Rudolf G, Peterlin B, et al. Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss. Mol Cytogenet, 2015, 8: 83
[3]Boulet S, Dieterich K, Althuser M, et al. Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome. Fetal Diagn Ther, 2010, 28(3): 186-190
[4]Jurkiewicz E, Marcinska B, Bothur-Nowacka J, et al. Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature. Pol J Radiol, 2013, 78(2): 57-64
[5]Shaul WL, Emery H, Hall JG. Chondrodysplasia punctata and maternal warfarin use during pregnancy. Am J Dis Child, 1975, 129(3): 360-362
[6]Eash DD, Weaver DD, Brunetti-Pierri N. Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system. Am J Med Genet A, 2003, 122A(1): 70-75
[7]Nino M, Matos-Miranda C, Maeda M, et al. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Am J Med Genet, 2008, 146A(8): 997-1008
[8]Alessandri JL, Ramful D, Cuillier F, et al. Binder fenotype and brachytelephalanic chondrodysplasia punctata secondary to maternal vitamin K deficiency. Clin Dysmorph, 2010, 19(2), 85-87
[9]Menger H, Lin AE, Toriello HV, et al. Vitamin K Deficiency Embryopathy: A Phenocopy of the Warfarin Embryopathy Due to a Disorder of Embryonic Vitamin K Metabolism. Am J Med Genet, 1997, 72(2): 129-134
[10]Curry CJR, Micek M, Bertken R, et al. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology? Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec. August 1993
[11]Costa T, Tiller G, Chitayat D, et al. Maternal systemic lupus erythematosus (SLE) and chondrodysplasia punctata in two infants. Coincidence or association? Presented at Bone Dysplasia Society meeting, Chicago. June 1993
[12]Wolpoe ME, Braverman N, Lin SY. Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata. Arch Otohmgol Head Neck sIlrg, 2004, 130(12): 1423-1426
[13]Matos-Miranda C, Nimmo G, Williams B, et al. A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies. Genet Med, 2013, 15(8): 650-657
[14]Jeon GW, Kwon MJ, Lee SJ et al. Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene. Ann Clin Lab Sci, 2013, Winter, 43(1): 70-75
[15]Casarin A, Rusalen F, Doimo M, et al. X-linked brachytele-phalangic chondrodysplasia punctata: a simple trait that is not so simple. Am J Genet A, 2009, 149A(11): 2464-2468
[16]Mundinger GS, Weiss C, Fishman EK. Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata. Pediatr Radiol, 2009, 39(6): 625-628
[17]Franco B, Meroni G, Parenti G, et al. A cluster of sulfatase genes on Xp22. 3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell, 1995, 81(1): 15-25 |
