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23. Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. Geneviève D; Héron D; El Ghouzzi V; Prost-Squarcioni C; Le Merrer M; Jacquette A; Sanlaville D; Pinton F; Villeneuve N; Kalifa G; Munnich A; Cormier-Daire V Eur J Hum Genet; 2005 May; 13(5):541-6. PubMed ID: 15726110 [TBL] [Abstract][Full Text] [Related]
24. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. Baraitser M; Winter RM J Med Genet; 1988 Jan; 25(1):41-3. PubMed ID: 3351890 [TBL] [Abstract][Full Text] [Related]
27. Hereditary myopathy, oligophrenia, cataract, skeletal abnormalities and hypergonadotropic hypogonadism; a new syndrome. Lundberg PO Eur Neurol; 1973; 10(5):261-80. PubMed ID: 4789103 [No Abstract] [Full Text] [Related]
28. A new skeletal dysplasia syndrome with dwarfism, craniofacial anomalies, and unique radiographic findings. Jones KL; Jones KL; Miller K Am J Med Genet; 1986 Mar; 23(3):751-7. PubMed ID: 2420178 [TBL] [Abstract][Full Text] [Related]
29. 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]
30. Short stature, mental retardation, eye anomalies, and cleft lip/palate. Richieri-Costa A; Guion-Almeida ML Am J Med Genet; 1992 Feb; 42(4):449-52. PubMed ID: 1609826 [TBL] [Abstract][Full Text] [Related]
31. [Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)]. Lavollay B; Faure C; Filipe G; Branca G; Huet de Barochez Y Arch Fr Pediatr; 1984 Jan; 41(1):57-60. PubMed ID: 6721654 [TBL] [Abstract][Full Text] [Related]
32. [Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]. Martínez-Frías ML; Cormier-Daire V; Cohn DH; Mendioroz J; Bermejo E; Mansilla E Med Clin (Barc); 2007 Feb; 128(4):137-40. PubMed ID: 17288936 [TBL] [Abstract][Full Text] [Related]
33. X-linked skeletal dysplasia with mental retardation. Christian JC; DeMyer Franken EA; Huff JS; Khairi S; Reed T Clin Genet; 1977 Feb; 11(2):128-36. PubMed ID: 837562 [TBL] [Abstract][Full Text] [Related]
39. A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs. Tonoki H; Kishino T; Niikawa N Am J Med Genet; 1990 May; 36(1):89-93. PubMed ID: 2333912 [TBL] [Abstract][Full Text] [Related]
40. Mental retardation, epilepsy, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome. Battaglia A; Orsitto E; Gibilisco G Am J Med Genet; 1996 Mar; 62(3):230-2. PubMed ID: 8882779 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]