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6. Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome. Roifman CM; Chitayat D Clin Genet; 2009 Nov; 76(5):449-57. PubMed ID: 19863561 [TBL] [Abstract][Full Text] [Related]
7. The MIller-Dieker syndrome. Jones KL; Gilbert EF; Kaveggia EG; Opitz JM Pediatrics; 1980 Aug; 66(2):277-81. PubMed ID: 7402813 [TBL] [Abstract][Full Text] [Related]
8. Radio-digito-facial dysplasia associated with dwarfism. Similä S; Finni K; Seppänen U; von Wendt L Helv Paediatr Acta; 1983 Mar; 38(1):81-6. PubMed ID: 6862996 [No Abstract] [Full Text] [Related]
9. A case of Aarskog syndrome with a review of Japanese literature. Aihara K; Nishi Y; Usui T Hiroshima J Med Sci; 1982 Jun; 31(2):87-90. PubMed ID: 7129954 [No Abstract] [Full Text] [Related]
10. Cohen syndrome is neither uncommon nor new. Norio R Am J Med Genet; 1994 Nov; 53(2):202-3. PubMed ID: 7856650 [No Abstract] [Full Text] [Related]
11. Costello syndrome: an overview. Hennekam RC Am J Med Genet C Semin Med Genet; 2003 Feb; 117C(1):42-8. PubMed ID: 12561057 [TBL] [Abstract][Full Text] [Related]
13. Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome. Maróti Z; Kutsche K; Sutajova M; Gal A; Nothwang HG; Czeizel AE; Tímár L; Sólyom E Am J Med Genet; 2002 May; 109(3):234-7. PubMed ID: 11977185 [No Abstract] [Full Text] [Related]
15. [Larsen's syndrome, inborn articular and osseous dysplasia connected with a characteristic face (author's transl)]. Fait M; Janovec M Acta Chir Orthop Traumatol Cech; 1975 Feb; 42(1):19-32. PubMed ID: 1119288 [No Abstract] [Full Text] [Related]
16. Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation. Shotelersuk V; Punyashthiti R; Srivuthana S; Wacharasindhu S Am J Med Genet; 2002 Jul; 110(4):384-90. PubMed ID: 12116214 [TBL] [Abstract][Full Text] [Related]
20. Long-term evaluation of a child with the branchio-oculo-facial syndrome. Schmerler S; Kushnick T; Desposito F Am J Med Genet; 1992 Sep; 44(2):177-8. PubMed ID: 1456287 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]