Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways - Journal of Pediatric and Adolescent Gynecology

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

From Rare Diseases, Genetic Disorders To Orphan Drugs, PDF, Genetic Disorder

Articles in Press: Journal of Pediatric and Adolescent Gynecology

Disorders of Sex Development - ScienceDirect

ESPR 2013 Pediatric Radiology

Dr. Christine Pennesi, MD – Ann Arbor, MI

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations