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24. An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature. Petit C; Melki J; Levilliers J; Serville F; Weissenbach J; Maroteaux P Hum Genet; 1990 Jul; 85(2):247-50. PubMed ID: 2370057 [TBL] [Abstract][Full Text] [Related]
25. [Chondrodysplasia punctata congenita: a genetic heterogenous disease]. Hack WW; Derksen-Samson JF; Grimberg RT; van der Harten JJ Tijdschr Kindergeneeskd; 1984 Feb; 52(1):16-23. PubMed ID: 6710469 [TBL] [Abstract][Full Text] [Related]
26. Chondrodysplasia punctata. Report of parent-to-child transmission. Jenkins T; Noll B S Afr Med J; 1978 Jul; 54(1):22-5. PubMed ID: 694691 [TBL] [Abstract][Full Text] [Related]
27. Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata. Mundinger GS; Weiss C; Fishman EK Pediatr Radiol; 2009 Jun; 39(6):625-8. PubMed ID: 19238369 [TBL] [Abstract][Full Text] [Related]
28. Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation. Hunter AG; Rimoin DL; Koch UM; MacDonald GJ; Cox DM; Lachman RS; Adomian G Am J Med Genet; 1985 Jul; 21(3):581-9. PubMed ID: 4025390 [TBL] [Abstract][Full Text] [Related]
29. [Non-rhizomelic chondrodysplasia punctata. Presentation of a clinical case]. Livolsi P Pediatr Med Chir; 1988; 10(6):659-61. PubMed ID: 3244547 [TBL] [Abstract][Full Text] [Related]
32. [Symptomatic calcification in the newborn. Phenocopies of chondrodysplasia punctata]. Leicher-Düber A; Schumacher R; Spranger J Rofo; 1990 Apr; 152(4):463-8. PubMed ID: 2160110 [TBL] [Abstract][Full Text] [Related]
33. A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature. Rakheja D; Read CP; Hull D; Boriack RL; Timmons CF Pediatr Dev Pathol; 2007; 10(2):142-8. PubMed ID: 17378690 [TBL] [Abstract][Full Text] [Related]
34. Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1). Horikoshi T; Kikuchi A; Tamaru S; Ono K; Kita M; Takagi K; Miyashita S; Kawame H; Shimokawa O; Harada N J Obstet Gynaecol Res; 2010 Jun; 36(3):671-5. PubMed ID: 20598055 [TBL] [Abstract][Full Text] [Related]
35. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. Parenti G; Buttitta P; Meroni G; Franco B; Bernard L; Rizzolo MG; Brunetti-Pierri N; Ballabio A; Andria G Am J Med Genet; 1997 Dec; 73(2):139-43. PubMed ID: 9409863 [TBL] [Abstract][Full Text] [Related]
36. Male siblings with tibia-metacarpal type of chondrodysplasia punctata without maternal factors. Honda R; Ichiyama T; Maeba S; Sunagawa S; Furukawa S Brain Dev; 2008 Apr; 30(4):301-4. PubMed ID: 17950549 [TBL] [Abstract][Full Text] [Related]
37. Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity? Borochowitz Z Am J Med Genet; 1991 Dec; 41(4):417-22. PubMed ID: 1776629 [TBL] [Abstract][Full Text] [Related]
39. Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Chitayat D; Keating S; Zand DJ; Costa T; Zackai EH; Silverman E; Tiller G; Unger S; Miller S; Kingdom J; Toi A; Curry CJ Am J Med Genet A; 2008 Dec; 146A(23):3038-53. PubMed ID: 19006208 [TBL] [Abstract][Full Text] [Related]
40. Severe tracheobronchial stenosis in the X-linked recessive form of chondrodysplasia punctata. Wolpoe ME; Braverman N; Lin SY Arch Otolaryngol Head Neck Surg; 2004 Dec; 130(12):1423-6. PubMed ID: 15611404 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]