4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Por um escritor misterioso
Last updated 01 março 2025
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Microcephaly, Radiology Reference Article
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4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal
Rubinstein-Taybi Syndrome 1
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Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
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Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
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Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
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Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
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Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
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4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal
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