Rubinstein - Taybi syndrome: phenotypic characteristics
Por um escritor misterioso
Descrição
Clinical characteristics of present cohort of patients with
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Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
Surgical treatment of scoliosis in Rubinstein-Taybi syndrome type 2: a case report – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open science
Dysmorphic and skeletal features of Rubinstein‐Taybi syndrome patients.
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Figure 1 from Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.
Psychiatric Profile in Rubinstein-Taybi Syndrome
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
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