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
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Last updated 12 abril 2025

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

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Articles in Press: Journal of Pediatric and Adolescent Gynecology

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

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

PDF) Congenital Anomalies of the Kidney and Urinary Tract Clinical Implications in Children

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library

Dr. Lauryn Roth, MD – Salt Lake City, UT

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

SPR 2013 SpringerLink
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