Facial features of Rubinstein-Taybi syndrome
Por um escritor misterioso
Last updated 22 fevereiro 2025
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Forgotten Diseases Research Foundation
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Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
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Typcial facial features and broad thumbs of the patient. A) Note his
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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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CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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Rubinstein-Taybi Syndrome: A Pediatric Case Report
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Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
DBMCI MDS (Formerly MDS Experts) on Instagram: RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated with deletions of the short arm of ch 16. Clinical Features: • Mental retardation • Broad thumbs •
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
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What Is Rubinstein-Taybi Syndrome? - StoryMD
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Physical Characteristics
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Figure 1 from Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.
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