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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PDF) HEALTH BRAZIL: PRIORITY CONGENITAL ANOMALIES FOR SURVEILLANCE AT BIRTH
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Perspectives in Pediatric Pathology, Chapter 14. Natural History of Undescended Testes - Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica, 2016
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SPR 2013 SpringerLink
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Growth charts for individuals with Rubinstein–Taybi syndrome - Beets - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library
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Dr. Lauryn Roth, MD – Salt Lake City, UT
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Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
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PDF) Congenital Anomalies of the Kidney and Urinary Tract Clinical Implications in Children
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Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
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Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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PDF) Scwannoma - a rare secondary neoplasm during growth hormone therapy in a child treated for medulloblastoma
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
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Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
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Disorders of Sex Development - ScienceDirect
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Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
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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
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