A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2939-2941

  Li, Chumei ^a   Szybowska, Marta ^a  

^a MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN;

ADULT; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; FACE ASYMMETRY; FACE DYSMORPHIA; FEMALE; HUMAN; KARYOTYPE; LETTER; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RUBINSTEIN SYNDROME;

ADULT; CREB-BINDING PROTEIN; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; PREGNANCY; RUBINSTEIN-TAYBI SYNDROME;

EID: 78049250010     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33693     Document Type: Letter

References (10)

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