Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical
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Descrição
In 1963, Rubinstein and Taybi first described Rubinstein-Taybi syndrome (RSTS) (Mendelian Inheritance in Man [MIM] #180849). Rubinstein-Taybi syndrome is a well-delineated malformation syndrome characterized by facial abnormalities, broad thumbs, broad great toes, short stature, and mental retardation.
Rubinstein-Taybi Syndrome
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of
Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3‐Dimensional Ultrasonography - Cardalliac - 2018 - Journal of Ultrasound in Medicine - Wiley Online Library
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Rubinstein‐Taybi syndrome and spontaneous keloids - Goodfellow - 1980 - Clinical and Experimental Dermatology - Wiley Online Library
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
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