4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Por um escritor misterioso
Last updated 20 novembro 2024
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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