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45. Radiological case of the month. Chondrodysplasia punctata: Conradi-Hünermann form. Young LW; King TD; Dunn D; Faygenbaum D Am J Dis Child; 1979 Nov; 133(11):1191-3. PubMed ID: 507012 [No Abstract] [Full Text] [Related]
46. [A case of multiple exostotic chondrodysplasia in combination with Wolf-Parkinson-White syndrome]. Morova NA; Ignat'ev IuT; Chetverikov SIu; Stefanenko GN Klin Med (Mosk); 2002; 80(8):64-5. PubMed ID: 12360625 [TBL] [Abstract][Full Text] [Related]
47. Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome. Shotelersuk V; Tongkobpetch S Clin Exp Dermatol; 2005 Jul; 30(4):419-21. PubMed ID: 15953085 [TBL] [Abstract][Full Text] [Related]
49. [Chondrodysplasia punctata. Conradi-Hünermann disease. Apropos a new case]. Gil Rivas MT; Aparicio Lozano P; Alonso Alvarez B; Sastre Huerta E; Sánchez Martín J; Merino Arribas JM An Esp Pediatr; 1996 May; 44(5):509-11. PubMed ID: 8928977 [No Abstract] [Full Text] [Related]
50. The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome. Traupe H; Has C Eur J Dermatol; 2000 Aug; 10(6):425-8. PubMed ID: 10980461 [TBL] [Abstract][Full Text] [Related]
51. [Conradi syndrome and inflammatory lineal verrucose epidermal nevus]. Román Maciá P; Albero Blanes F; de Teresa Parreño L Actas Dermosifiliogr; 1980; 71(5-6):209-14. PubMed ID: 7468331 [No Abstract] [Full Text] [Related]
52. Corneal changes in chondrodysplasia punctata syndrome. Spierer A; Neumann D Ann Ophthalmol; 1993 Sep; 25(9):356-8. PubMed ID: 8297075 [TBL] [Abstract][Full Text] [Related]
54. Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome. Steijlen PM; van Geel M; Vreeburg M; Marcus-Soekarman D; Spaapen LJ; Castelijns FC; Willemsen M; van Steensel MA Br J Dermatol; 2007 Dec; 157(6):1225-9. PubMed ID: 17949453 [TBL] [Abstract][Full Text] [Related]
55. A case of bilateral dysplasia epiphysealis hemimelica associated with polydactyly and syndactyly. Takegami Y; Nogami H Clin Orthop Relat Res; 1993 Nov; (296):307-9. PubMed ID: 8222443 [TBL] [Abstract][Full Text] [Related]
56. Chondrodysplasia punctata: case report and literature review of patients with heart lesions. Fourie DT Pediatr Cardiol; 1995; 16(5):247-50. PubMed ID: 8524712 [TBL] [Abstract][Full Text] [Related]
57. High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation. Umekoji A; Fukai K; Kasama T; Yokoi T; Saito M; Tsuruhara A; Ishii M J Dermatol Sci; 2008 Jul; 51(1):62-5. PubMed ID: 18387283 [No Abstract] [Full Text] [Related]