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
Por um escritor misterioso
Descrição
Dima Qu'd's research works Cincinnati Children's Hospital Medical Center, Ohio (CCHMC) and other places
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Disorders of Sex Development - ScienceDirect
PDF) Congenital Anomalies of the Kidney and Urinary Tract Clinical Implications in Children
ESPR 2013 Pediatric Radiology
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
SPR 2013 SpringerLink
PDF) Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches
PDF) Congenital Anomalies of the Kidney and Urinary Tract Clinical Implications in Children
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Calaméo - Embryo and Fetal Pathology