Familial Rubinstein-Taybi syndrome [6];Syndrome de Rubinstein-Taybi: À propos d'une forme familiale

Archives de Pediatrie

Volumn 11, Issue 8, 2004, Pages 978-979

  El Hafidi, N ^a,b   Ghanimi, Z ^b   Gaouzi, A ^b   Benhamou, B ^b   Alaoui M'Sseffer, F ^b  

^a Hopital d'Enfants   (Morocco)

^b Et Neurol Hôpital d'Enfant ^*

Author keywords

Child; Rubinstein Taybi (syndrome de); Rubinstein Taybi syndrome

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN;

ANAMNESIS; CASE REPORT; CHROMOSOME ABERRATION; CLINICAL FEATURE; FAMILIAL DISEASE; FAMILY HISTORY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SCREENING; HUMAN; KARYOTYPE; LABORATORY TEST; LETTER; PARENT; RADIOGRAPHY; RUBINSTEIN SYNDROME; SYMPTOM;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; FEMALE; GENES, DOMINANT; GENETIC COUNSELING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MOSAICISM; PEDIGREE; RUBINSTEIN-TAYBI SYNDROME;

EID: 3442885676     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcped.2004.05.014     Document Type: Letter

References (5)

1. Lacombe D. Le syndrome de Rubinstein-Taybi. Arch Pediatr. 1:1994;681-683
2. Berry A.C. Rubinstein-Taybi syndrome. J Med Genet. 24:1987;562-566
3. Taine L., Goizet C., Wen Z.Q., Petrij F., Breuning M., Saura R., et al. Délétion submicroscopique du chromosome 16p13.3: étude d'une série de patients français porteurs du syndrome de Rubinstein-Taybi. (Abstract). Arch Pédiatr. 4:(Supplement 2):1997;230s
4. Coupry I., Roudaut C., Stef M., Delrue M.A., Marche M., Burgelin I., et al. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet. 39:2002;415-421
5. Marion R.W., Garcia D.M., Karasik J.B. Apparent dominate transmission of the Rubinstein-Taybi syndrome. Am J Med Genet. 46:1993;284-287