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3. Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature. Lurie IW; Supovitz KR; Rosenblum-Vos LS; Wulfsberg EA Genet Couns; 1994; 5(1):11-4. PubMed ID: 8031530 [TBL] [Abstract][Full Text] [Related]
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6. Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease. Işlek I; Küçüködük S; Erkan D; Bernay F; Kalayci AG; Görk S; Kandemir B; Gürses N Clin Dysmorphol; 1996 Jul; 5(3):271-3. PubMed ID: 8818459 [No Abstract] [Full Text] [Related]
7. Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene. Wallace M; Zori RT; Alley T; Whidden E; Gray BA; Williams CA Am J Med Genet; 1994 May; 50(4):368-74. PubMed ID: 8209918 [TBL] [Abstract][Full Text] [Related]
8. Smith-Lemli-Opitz syndrome: the changing phenotype with age. de Die-Smulders C; Fryns JP Genet Couns; 1992; 3(2):77-82. PubMed ID: 1642814 [TBL] [Abstract][Full Text] [Related]
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10. Borderline normal intelligence in the Smith-Lemli-Opitz (RSH) syndrome. Lowry RB; Yong SL Am J Med Genet; 1980; 5(2):137-43. PubMed ID: 7395908 [TBL] [Abstract][Full Text] [Related]
11. Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome. Cherian MP; Al-Sanna'a NA; Al-Mulhim SI J Pediatr Surg; 2008 Jun; 43(6):1213-7. PubMed ID: 18558212 [TBL] [Abstract][Full Text] [Related]
12. Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism. Chudley AE; Rozdilsky B; Houston CS; Becker LE; Knoll JH Am J Med Genet; 1985 Jan; 20(1):145-58. PubMed ID: 3970066 [TBL] [Abstract][Full Text] [Related]
13. Juberg-Marsidi syndrome: report of an additional case. Tsukahara M; Nasu T; Takihara H; Hattori Y; Nakane H; Kamata K; Mitsui H; Hayashida S Am J Med Genet; 1995 Sep; 58(4):353-5. PubMed ID: 8533845 [TBL] [Abstract][Full Text] [Related]
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20. Short stature, mental retardation and multiple dysmorphisms in two unrelated females: one or two different syndromes or none? Pfeiffer RA; Kapferer L; Tietze HU Genet Couns; 1996; 7(3):213-7. PubMed ID: 8897043 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]