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42. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Happle R Hum Genet; 1979; 53(1):65-73. PubMed ID: 535904 [TBL] [Abstract][Full Text] [Related]
43. The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome. Cañueto J; Girós M; González-Sarmiento R Biochim Biophys Acta; 2014 Mar; 1841(3):336-44. PubMed ID: 24036494 [TBL] [Abstract][Full Text] [Related]
44. Normal peroxisomal function and absent skeletal manifestations in Conradi-Hünermann syndrome. Prendiville JS; Zaparackas ZG; Esterly NB Arch Dermatol; 1991 Apr; 127(4):539-42. PubMed ID: 2006879 [TBL] [Abstract][Full Text] [Related]
45. Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation. Morice-Picard F; Kostrzewa E; Wolf C; Benlian P; Taïeb A; Lacombe D Arch Dermatol; 2011 Sep; 147(9):1073-6. PubMed ID: 21931045 [TBL] [Abstract][Full Text] [Related]
46. Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome. Ikegawa S Am J Med Genet A; 2004 Sep; 130A(1):106. PubMed ID: 15368506 [No Abstract] [Full Text] [Related]
47. Chondrodystrophia calcificans congenita (the conradi-hunermann syndrome). Report of a case recognized antenatally. Hyndman WB; Alexander DS; Mackie KW Clin Pediatr (Phila); 1976 Apr; 15(4):311-21. PubMed ID: 1253511 [No Abstract] [Full Text] [Related]
48. Conradi-Hünermann-Happle syndrome with abnormal lamellar granule contents. Akiyama M; Sakai K; Hayasaka K; Tabata N; Yamada M; Ujiie H; Shibaki A; Shimizu H Br J Dermatol; 2009 Jun; 160(6):1335-7. PubMed ID: 19416264 [No Abstract] [Full Text] [Related]
49. [Deficit of cellular chemotaxis in a case of chondrodystrophic punctata of the Conradi-Hunermann type]. Galluzzi F; De Martino M; Salti R; Varone D; La Cauza C Minerva Pediatr; 1980 Apr; 32(8):555-62. PubMed ID: 7393188 [No Abstract] [Full Text] [Related]
50. Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls. Jeong HS; Funari T; Gordon K; Richard G; Agim NG Pediatr Dermatol; 2017 Sep; 34(5):e245-e248. PubMed ID: 28730607 [TBL] [Abstract][Full Text] [Related]
51. [Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature]. Omobono E; Goetsch W Minerva Pediatr; 1993 Mar; 45(3):117-21. PubMed ID: 8341225 [TBL] [Abstract][Full Text] [Related]
53. Conradi-Hünermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC. Batista M; Morgado F; Cardoso JC; Moreno A; Ramos L Dermatol Online J; 2020 Oct; 26(10):. PubMed ID: 33147667 [TBL] [Abstract][Full Text] [Related]
54. 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]
55. 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]
56. 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]
58. [Conradi-Hünermann syndrome in a newborn infant]. Maszkiewicz W; Kagan-Sypula I; Ginczewska T Pediatr Pol; 1978 Jul; 53(7):889-92. PubMed ID: 693139 [No Abstract] [Full Text] [Related]
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60. [The Conradi-Hunermann syndrome. On a case of the complete clinical form]. Brughera F Minerva Pediatr; 1971 Sep; 23(38):1571-6. PubMed ID: 5122027 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]