These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). Giannotti A; Digilio MC; Mingarelli R; Dallapiccola B J Med Genet; 1995 Jan; 32(1):72-4. PubMed ID: 7897634 [TBL] [Abstract][Full Text] [Related]
5. Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation. Tanpaiboon P; Sittiwangkul R; Dejkhamron P; Srikummool M; Sripathomsawat W; Kantaputra P Am J Med Genet A; 2009 Aug; 149A(8):1749-53. PubMed ID: 19606477 [TBL] [Abstract][Full Text] [Related]
6. Acro-cardio-facial syndrome: a microdeletion syndrome? Toschi B; Valetto A; Bertini V; Congregati C; Cantinotti M; Assanta N; Simi P Am J Med Genet A; 2012 Aug; 158A(8):1994-9. PubMed ID: 22740423 [TBL] [Abstract][Full Text] [Related]
7. Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report. Sivasli O; Ozer EA; Ozer A; Aydinlioglu H; Helvaci M Genet Couns; 2007; 18(2):247-50. PubMed ID: 17710878 [TBL] [Abstract][Full Text] [Related]
8. Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition? McPherson E; Clemens M Am J Med Genet; 1996 Mar; 62(1):58-60. PubMed ID: 8779326 [TBL] [Abstract][Full Text] [Related]
9. Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype. Holder SE; Winter RM; Kamath S; Scambler PJ J Med Genet; 1993 Oct; 30(10):825-7. PubMed ID: 8230158 [TBL] [Abstract][Full Text] [Related]
10. [Polysyndactyly with complex cardiopathy. Apropos of 3 cases in the same family]. Bonneau JC; Moirot H; Bastard C; Petitcolas J; Ropartz C J Genet Hum; 1983 Jun; 31(2):93-105. PubMed ID: 6313864 [TBL] [Abstract][Full Text] [Related]
18. Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance. Hedera P; Gorski JL Am J Med Genet A; 2003 Dec; 123A(3):261-6. PubMed ID: 14608648 [TBL] [Abstract][Full Text] [Related]
19. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. Ming JE; Russell KL; Bason L; McDonald-McGinn DM; Zackai EH Am J Med Genet A; 2003 Dec; 123A(3):249-52. PubMed ID: 14608645 [TBL] [Abstract][Full Text] [Related]
20. Craniofacial morphology in the velo-cardio-facial syndrome. Arvystas M; Shprintzen RJ J Craniofac Genet Dev Biol; 1984; 4(1):39-45. PubMed ID: 6736220 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]