4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Por um escritor misterioso
Last updated 10 novembro 2024
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal
Forgotten Diseases Research Foundation
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus
JCM, Free Full-Text
Congenital Hypothyroidism Associated with Rubinstein-Taybi Syndrome
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Genes, Free Full-Text
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome - Bartsch - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
File:Rubinstein-Taybi Syndrome1.jpg - Wikipedia
Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome: A case report
12 Patient with osteodysplastic primordial dwarfism with microcephaly
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