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6. DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases. Lin HJ; Kakkis ED; Eteson DJ; Lachman RS Am J Med Genet; 1993 Sep; 47(4):534-9. PubMed ID: 8256819 [TBL] [Abstract][Full Text] [Related]
7. Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome. Nevin NC; Thomas PS; Calvert J; Reid MM Am J Med Genet; 1982 Nov; 13(3):325-32. PubMed ID: 7180877 [No Abstract] [Full Text] [Related]
8. A further case of opsismodysplasia with hydrocephalus. Ramos FJ; González JP; Cortabarria C; Domenech E; Pérez-González J; Bueno M Eur J Med Genet; 2006; 49(1):93-100. PubMed ID: 16473316 [TBL] [Abstract][Full Text] [Related]
9. [The oto-palato-digital syndrome (Taybi) (author's transl)]. Szabó L; Perjés K; Mangliár K Z Orthop Ihre Grenzgeb; 1977 Feb; 115(1):75-82. PubMed ID: 842092 [TBL] [Abstract][Full Text] [Related]
10. DOOR syndrome: A case report and its embryological basis. Santos M; Reis-Rego Â; Coutinho M; Almeida E Sousa C Int J Pediatr Otorhinolaryngol; 2019 Feb; 117():57-60. PubMed ID: 30579089 [TBL] [Abstract][Full Text] [Related]
11. Familial transmission of a dysmorphic syndrome: a variant example of Kabuki syndrome? Belengeanu V; Rozsnyai K; Farcaş S; Velea I; Fryns JP Genet Couns; 2005; 16(2):167-71. PubMed ID: 16080297 [TBL] [Abstract][Full Text] [Related]
12. Additional case report of the DOOR syndrome. Hess RO; Pecotte JK Am J Med Genet; 1984 Oct; 19(2):401-5. PubMed ID: 6507487 [No Abstract] [Full Text] [Related]
14. Autosomal recessive Robinow syndrome: a case report. Grothe R; Anderson-Cermin C; Beiraghi S J Dent Child (Chic); 2008; 75(1):48-54. PubMed ID: 18505648 [TBL] [Abstract][Full Text] [Related]
15. A patient with the Weaver syndrome in Puerto Rico: a case report. Toledo A; Acevedo-Hernández A; ViIlegas VM; Izquierdo NJ Bol Asoc Med P R; 2012; 104(1):43-5. PubMed ID: 22788078 [TBL] [Abstract][Full Text] [Related]
16. Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome. Thornton CM; Magee AC; Thomas PS; Feakins R; Nevin NC; O'Hara MD Pediatr Pathol; 1994; 14(5):797-803. PubMed ID: 7808978 [TBL] [Abstract][Full Text] [Related]
17. Schimke immuno-osseous dysplasia. Basiratnia M; Fallahzadeh MH Saudi Med J; 2007 Mar; 28(3):457-60. PubMed ID: 17334480 [TBL] [Abstract][Full Text] [Related]
18. Mild case of Curry-Jones syndrome. Thomas ER; Wakeling EL; Goodman FR; Dickinson JC; Hall CM; Brady AF Clin Dysmorphol; 2006 Apr; 15(2):115-7. PubMed ID: 16531740 [TBL] [Abstract][Full Text] [Related]
19. Freeman-Sheldon syndrome: a case report. Aren G; Yurdabakan Z; Ozcan I Quintessence Int; 2003 Apr; 34(4):307-10. PubMed ID: 12731619 [TBL] [Abstract][Full Text] [Related]
20. Marfanoid habitus, dysmorphic features, and web neck. Lee YC; Wilson CJ; Winship IM; Veale AG South Med J; 2000 Dec; 93(12):1197-200. PubMed ID: 11142456 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]