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4 Newborn with Rubinstein-Taybi syndrome showing microcephaly

Por um escritor misterioso

Last updated 22 dezembro 2024

4 Newborn with Rubinstein-Taybi syndrome showing microcephaly

Microcephaly, Radiology Reference Article

4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal

Rubinstein-Taybi Syndrome 1

Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics

Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal

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