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Volumn 11, Issue 8, 2004, Pages 978-979
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Familial Rubinstein-Taybi syndrome [6];Syndrome de Rubinstein-Taybi: À propos d'une forme familiale
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Author keywords
Child; Rubinstein Taybi (syndrome de); Rubinstein Taybi syndrome
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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;
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EID: 3442885676
PISSN: 0929693X
EISSN: None
Source Type: Journal
DOI: 10.1016/j.arcped.2004.05.014 Document Type: Letter |
Times cited : (2)
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References (5)
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