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

Calaméo - Embryo and Fetal Pathology

Bioquimica, PDF, Endocrinology

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

Rubinstein-Taybi Syndrome

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

Perspectives in Pediatric Pathology, Chapter 14. Natural History of Undescended Testes - Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica, 2016

Giuseppe Buonocore, Rodolfo Bracci, Michael Weindling - Neonatology-Springer International Publishing (2018), PDF, Neonatology

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

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

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

Genetic Disorder: Most Up-to-Date Encyclopedia, News & Reviews

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