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2. Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation. García-Sagredo JM; Lozano C; Ferrando P; San Román C Clin Genet; 1984 Aug; 26(2):117-24. PubMed ID: 6147215 [TBL] [Abstract][Full Text] [Related]
3. Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome. Leichtman LG Clin Dysmorphol; 1996 Jan; 5(1):61-4. PubMed ID: 8867661 [TBL] [Abstract][Full Text] [Related]
8. Fallot complex, severe mental, and growth retardation: a new autosomal recessive syndrome? Bindewald B; Ulmer H; Müller U Am J Med Genet; 1994 Apr; 50(2):173-6. PubMed ID: 8010348 [TBL] [Abstract][Full Text] [Related]
9. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Schinzel A; Giedion A Am J Med Genet; 1978; 1(4):361-75. PubMed ID: 665725 [TBL] [Abstract][Full Text] [Related]
10. New autosomal recessive syndrome of mental retardation, coarse face, microcephaly, epilepsy and skeletal abnormalities. Battaglia A; Ferrari AR; Orsitto E; Gibilisco G; Neri G Clin Dysmorphol; 1996 Jan; 5(1):41-7. PubMed ID: 8867658 [TBL] [Abstract][Full Text] [Related]
11. A new recessive syndrome of unusual facies and multiple structural abnormalities. Thakker Y; Donnai D J Med Genet; 1991 Sep; 28(9):633-5. PubMed ID: 1956065 [TBL] [Abstract][Full Text] [Related]
12. Severe cardiac anomalies in sibs with Larsen syndrome. Strisciuglio P; Sebastio G; Andria G; Maione S; Raia V J Med Genet; 1983 Dec; 20(6):422-4. PubMed ID: 6655668 [TBL] [Abstract][Full Text] [Related]
13. Skin manifestations of cardio-facio-cutaneous syndrome. Borradori L; Blanchet-Bardon C J Am Acad Dermatol; 1993 May; 28(5 Pt 2):815-9. PubMed ID: 8491871 [TBL] [Abstract][Full Text] [Related]
14. Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form. Bartsocas CS; Papas CV J Med Genet; 1972 Jun; 9(2):222-6. PubMed ID: 4339984 [No Abstract] [Full Text] [Related]
15. Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Opitz JM; Kaveggia EG Z Kinderheilkd; 1974 Apr; 117(1):1-18. PubMed ID: 4365204 [No Abstract] [Full Text] [Related]
16. Congenital heart disease and urinary tract abnormalities in two siblings with DOOR syndrome. Thornton CM; Magee AC; Thomas PS; Feakins R; Nevin NC; O'Hara MD Pediatr Pathol; 1994; 14(5):797-803. PubMed ID: 7808978 [TBL] [Abstract][Full Text] [Related]
17. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. Armour CM; Allanson JE J Med Genet; 2008 Apr; 45(4):249-54. PubMed ID: 18039946 [TBL] [Abstract][Full Text] [Related]
18. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. Nava C; Hanna N; Michot C; Pereira S; Pouvreau N; Niihori T; Aoki Y; Matsubara Y; Arveiler B; Lacombe D; Pasmant E; Parfait B; Baumann C; Héron D; Sigaudy S; Toutain A; Rio M; Goldenberg A; Leheup B; Verloes A; Cavé H J Med Genet; 2007 Dec; 44(12):763-71. PubMed ID: 17704260 [TBL] [Abstract][Full Text] [Related]
19. Seckel syndrome associated with atrioventricular canal defect: a case report. Ucar B; Kilic Z; Dinleyici EC; Yakut A; Dogruel N Clin Dysmorphol; 2004 Jan; 13(1):53-5. PubMed ID: 15127771 [TBL] [Abstract][Full Text] [Related]
20. Opitz trigonocephaly syndrome. Haaf T; Hofmann R; Schmid M Am J Med Genet; 1991 Sep; 40(4):444-6. PubMed ID: 1746609 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]