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22. Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Tournev I; Kalaydjieva L; Youl B; Ishpekova B; Guergueltcheva V; Kamenov O; Katzarova M; Kamenov Z; Raicheva-Terzieva M; King RH; Romanski K; Petkov R; Schmarov A; Dimitrova G; Popova N; Uzunova M; Milanov S; Petrova J; Petkov Y; Kolarov G; Aneva L; Radeva O; Thomas PK Ann Neurol; 1999 Jun; 45(6):742-50. PubMed ID: 10360766 [TBL] [Abstract][Full Text] [Related]
23. A family with hereditary hyperferritinaemia cataract syndrome: evidence of incomplete penetrance and clinical heterogeneity. Gonzalez-Huerta L; Ramirez-Sanchez V; Rivera-Vega M; Messina-Baas O; Cuevas-Covarrubias S Br J Haematol; 2008 Nov; 143(4):596-8. PubMed ID: 18710380 [No Abstract] [Full Text] [Related]
24. [The Williams and Beuren syndrome: aspects of the elfin facies]. Bezzi TM; Bergamini M; Scorrano M; Pinca A Pediatria (Napoli); 1983; 91(2-3):281-6. PubMed ID: 6664736 [No Abstract] [Full Text] [Related]
25. Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome. Brooks DG; Manova-Todorova K; Farmer J; Lobmayr L; Wilson RB; Eagle RC; St Pierre TG; Stambolian D Invest Ophthalmol Vis Sci; 2002 Apr; 43(4):1121-6. PubMed ID: 11923255 [TBL] [Abstract][Full Text] [Related]
26. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? Mégarbané A; Choueiri R; Bleik J; Mezzina M; Caillaud C J Med Genet; 1999 Aug; 36(8):637-40. PubMed ID: 10465117 [TBL] [Abstract][Full Text] [Related]
30. X-linked dominant chondrodysplasia punctata/ichthyosis/cataract syndrome in males. Happle R Am J Med Genet; 1995 Jul; 57(3):493. PubMed ID: 7677158 [No Abstract] [Full Text] [Related]
31. [Cataracts]. van der Stein B Z Hautkr; 1987 Dec; 62(24):1675-80. PubMed ID: 3439246 [No Abstract] [Full Text] [Related]
32. Urofacial syndrome. Teebi AS; Farag TI; el-Khalifa MY; Besisso MS; al-Ansari AG Am J Med Genet; 1989 Dec; 34(4):608. PubMed ID: 2624278 [No Abstract] [Full Text] [Related]
33. [Discoid facies (moonlike facies of May and Mozziconacci); clinical and hormonal correlation of the discoid facies with largeness of the hips and shoulders]. GAYRAL L; DAUTY R Ann Endocrinol (Paris); 1958; 19(2):319-42. PubMed ID: 13559765 [No Abstract] [Full Text] [Related]
34. [ON THE ALCOHOLIC FACIES]. ROTTER H Wien Med Wochenschr; 1964 Nov; 114():796-9. PubMed ID: 14318428 [No Abstract] [Full Text] [Related]
35. [Apropos of a case of "testosterone facies"]. DE BENEDETTO F Prog Med (Napoli); 1959 Oct; 15():613-6. PubMed ID: 13814653 [No Abstract] [Full Text] [Related]
36. An unusual syndrome in a family with cataracts and abnormal facies. Parsons G; Watt P P N G Med J; 1984 Jun; 27(2):110. PubMed ID: 6598547 [No Abstract] [Full Text] [Related]
37. Premature cataracts in a family with hidrotic ectodermal dysplasia. Hazen PG; Zamora I; Bruner WE; Muir WA Arch Dermatol; 1980 Dec; 116(12):1385-7. PubMed ID: 7458367 [TBL] [Abstract][Full Text] [Related]
38. Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity. Shabo G; Scheffer H; Cruysberg JR; Lammens M; Pasman JW; Spruit M; Willemsen MA Pediatr Neurol; 2005 Oct; 33(4):277-9. PubMed ID: 16194727 [TBL] [Abstract][Full Text] [Related]
39. Syndactyly type 1 with cataracts and mental retardation. Pavone L; Fiumara A; Rizzo R; Parano E; Incorpora G Clin Dysmorphol; 1993 Jul; 2(3):257-9. PubMed ID: 8287189 [TBL] [Abstract][Full Text] [Related]