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2. Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance. Hordijk R; Van de Logt F; Houtman WA; Van Essen AJ Genet Couns; 1996; 7(2):113-22. PubMed ID: 8831130 [TBL] [Abstract][Full Text] [Related]
3. An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria. Knerr I; Zschocke J; Schellmoser S; Topf HG; Weigel C; Dötsch J; Rascher W BMC Pediatr; 2005 Apr; 5(1):5. PubMed ID: 15811181 [TBL] [Abstract][Full Text] [Related]
4. [Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome]. Hatt Brupbacher SC; Job O; Senn P; Dedes W Klin Monbl Augenheilkd; 2009 Apr; 226(4):344-6. PubMed ID: 19384796 [TBL] [Abstract][Full Text] [Related]
5. Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome? Feingold M; Bartoshesky L Am J Med Genet; 1992 Aug; 43(6):1030-1. PubMed ID: 1415329 [TBL] [Abstract][Full Text] [Related]
6. Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. Lee BJ; Kim JH; Yu YS Ophthalmic Genet; 2010 Jun; 31(2):89-93. PubMed ID: 20450312 [TBL] [Abstract][Full Text] [Related]
7. Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance. Limwongse C; Wyszynski RE; Dickerman LH; Robin NH Am J Med Genet; 1999 Sep; 86(3):215-8. PubMed ID: 10482868 [TBL] [Abstract][Full Text] [Related]
8. Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family. Sadler LS; Robinson LK Am J Med Genet; 1993 Aug; 47(1):65-8. PubMed ID: 8368255 [TBL] [Abstract][Full Text] [Related]
9. Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases. Angle B; Holgado S; Burton BK; Miller MT; Shapiro MJ; Opitz JM Am J Med Genet; 1994 Nov; 53(2):99-101. PubMed ID: 7856652 [TBL] [Abstract][Full Text] [Related]
10. Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardation. Verloes A; Misson JP; Dubru JM; Jamblin P; Le Merrer M Clin Dysmorphol; 1995 Jul; 4(3):208-15. PubMed ID: 7551156 [TBL] [Abstract][Full Text] [Related]
11. On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association. Fryns JP; Smeets E; Van den Berghe H Clin Genet; 1995 Sep; 48(3):131-3. PubMed ID: 8556819 [TBL] [Abstract][Full Text] [Related]
12. A new case of Martsolf syndrome. Bora E; Cankaya T; Alpman A; Karaca E; Cogulu O; Tekgul H; Ozkinay F Genet Couns; 2007; 18(1):71-5. PubMed ID: 17515302 [TBL] [Abstract][Full Text] [Related]
13. Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity. Horn D; Krebsová A; Kunze J; Reis A Am J Med Genet; 2000 Jun; 92(4):285-92. PubMed ID: 10842298 [TBL] [Abstract][Full Text] [Related]
14. [Embryonic pathology caused by maternal phenylketonuria. A cause of underdiagnosed mental retardation. A report of 8 cases]. Campistol Plana J; Arellano Pedrola M; Poo Argüelles P; Escofet Sotera C; Pérez Olarte P; Vilaseca Buscà MA An Esp Pediatr; 1999 Aug; 51(2):139-42. PubMed ID: 10495499 [TBL] [Abstract][Full Text] [Related]
15. Chorioretinal dysplasia-microcephaly-mental retardation syndrome. Warburg M; Heuer HE Am J Med Genet; 1994 Aug; 52(1):117. PubMed ID: 7977454 [No Abstract] [Full Text] [Related]
16. 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]
17. A syndrome of multiple fundal anomalies in siblings with microcephaly without mental retardation. Sheriff SM; Hegab S Ophthalmic Surg; 1988 May; 19(5):353-5. PubMed ID: 3399264 [TBL] [Abstract][Full Text] [Related]
18. A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. Cilliers DD; Parveen R; Clayton P; Cairns SA; Clarke S; Shalet SM; Black GC; Newman WG; Clayton-Smith J Eur J Med Genet; 2007; 50(3):216-23. PubMed ID: 17369115 [TBL] [Abstract][Full Text] [Related]