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8. 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]
9. 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]
10. Conradi-Hünermann-Happle syndrome associated with severe hypocalcemia in a newborn. Dykman M; Voller LM; Boull C Pediatr Dermatol; 2022 Jul; 39(4):657-658. PubMed ID: 35355312 [TBL] [Abstract][Full Text] [Related]
11. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. Posey JE; Burrage LC; Campeau PM; Lu JT; Eble TN; Kratz L; Schlesinger AE; Gibbs RA; Lee BH; Nagamani SC Am J Med Genet A; 2015 Jun; 167(6):1309-14. PubMed ID: 25846959 [TBL] [Abstract][Full Text] [Related]
12. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome. Pacault M; Vincent M; Besnard T; Kannengiesser C; Bénéteau C; Barbarot S; Latypova X; Belabbas K; Lamazière A; Winer N; Joubert M; Bézieau S; Isidor B; Mercier S; Nizon M; Leclerc-Mercier S; Hadj-Rabia S; Dufernez F Eur J Hum Genet; 2018 Dec; 26(12):1784-1790. PubMed ID: 30135486 [TBL] [Abstract][Full Text] [Related]
13. Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hünermann-Happle syndrome). Hoang MP; Carder KR; Pandya AG; Bennett MJ Am J Dermatopathol; 2004 Feb; 26(1):53-8. PubMed ID: 14726822 [TBL] [Abstract][Full Text] [Related]
14. Serum lipid analysis confirms the diagnosis of X-linked dominant chondrodysplasia punctata - Conradi-Hünermann-Happle syndrome. Lindenthal B; Repgen R; Emons D; Lentze MJ; von Bergmann K; Lütjohann D Klin Padiatr; 2004; 216(2):67-9. PubMed ID: 15106076 [TBL] [Abstract][Full Text] [Related]
15. 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]
17. [Conradi-Hünermann-Happle syndrome with unilateral distribution]. Hello M; David A; Barbarot S Ann Dermatol Venereol; 2010 Jan; 137(1):44-7. PubMed ID: 20110068 [TBL] [Abstract][Full Text] [Related]
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19. Two novel EBP mutations in Conradi-Hünermann-Happle syndrome. Ausavarat S; Tanpaiboon P; Tongkobpetch S; Suphapeetiporn K; Shotelersuk V Eur J Dermatol; 2008; 18(4):391-3. PubMed ID: 18573709 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]