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5. [Fatal cardiac complications in a child operated on for severe scoliosis with a Coffin-Lowry syndrome. Apropos of a case]. Charles S; Passuti N; Rogez JM; David A Chir Pediatr; 1988; 29(1):36-8. PubMed ID: 3396137 [TBL] [Abstract][Full Text] [Related]
6. Early clinical signs in Coffin-Lowry syndrome. Vles JS; Haspeslagh M; Raes MM; Fryns JP; Casaer P; Eggermont E Clin Genet; 1984 Nov; 26(5):448-52. PubMed ID: 6541982 [TBL] [Abstract][Full Text] [Related]
7. Coffin-Lowry syndrome: clinical and molecular features. Hanauer A; Young ID J Med Genet; 2002 Oct; 39(10):705-13. PubMed ID: 12362025 [TBL] [Abstract][Full Text] [Related]
8. The Coffin-Lowry syndrome. Experience from four centres. Hunter AG; Partington MW; Evans JA Clin Genet; 1982 May; 21(5):321-35. PubMed ID: 7116677 [TBL] [Abstract][Full Text] [Related]
9. The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome. Temtamy SA; Miller JD; Hussels-Maumenee I J Pediatr; 1975 May; 86(5):724-31. PubMed ID: 1133653 [TBL] [Abstract][Full Text] [Related]
10. Brief clinical report: early recognition of the Coffin-Lowry syndrome. Wilson WG; Kelly TE Am J Med Genet; 1981; 8(2):215-20. PubMed ID: 7282775 [TBL] [Abstract][Full Text] [Related]
11. Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome. Qazi QH; Nangia BS J Pediatr; 1984 Mar; 104(3):391-4. PubMed ID: 6707793 [TBL] [Abstract][Full Text] [Related]
12. Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome. Zweier C; Rittinger O; Bader I; Berland S; Cole T; Degenhardt F; Di Donato N; Graul-Neumann L; Hoyer J; Lynch SA; Vlasak I; Wieczorek D Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):290-301. PubMed ID: 25099957 [TBL] [Abstract][Full Text] [Related]
13. Late-onset sensorineural hearing loss in Coffin-Lowry syndrome. Rosanowski F; Hoppe U; Pröschel U; Eysholdt U ORL J Otorhinolaryngol Relat Spec; 1998; 60(4):224-6. PubMed ID: 9646311 [TBL] [Abstract][Full Text] [Related]
14. A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings. Tos T; Alp MY; Aksoy A; Ceylaner S; Hanauer A Genet Couns; 2015; 26(1):47-52. PubMed ID: 26043507 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Coffin-Lowry syndrome with sensorineural deafness and labyrinthine anomaly. Higashi K; Matsuki C J Laryngol Otol; 1994 Feb; 108(2):147-8. PubMed ID: 8163917 [TBL] [Abstract][Full Text] [Related]
18. Enhanced accumulation of hyaluronate in the culture of skin fibroblasts from two patients with Coffin-Lowry syndrome. Miyazaki K; Yamanaka T; Oohira A Tohoku J Exp Med; 1989 Aug; 158(4):325-34. PubMed ID: 2588262 [TBL] [Abstract][Full Text] [Related]
19. Autopsy findings in two adult siblings with Coffin-Lowry syndrome. Machin GA; Walther GL; Fraser VM Am J Med Genet Suppl; 1987; 3():303-9. PubMed ID: 3130866 [TBL] [Abstract][Full Text] [Related]
20. Short stature, craniofacial dysmorphism and dento-skeletal abnormalities in a large kindred. A variant of K.B.G. syndrome or a new mental retardation syndrome. Parloir C; Fryns JP; Deroover J; Lebas E; Goffaux P; van den Berghe H Clin Genet; 1977 Nov; 12(5):263-6. PubMed ID: 589847 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]