4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Por um escritor misterioso
Last updated 20 setembro 2024
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine
Microcephaly: Symptoms, Causes & Outlook
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Syndromes Associated with Microcephaly @medmiracle952
12 Patient with osteodysplastic primordial dwarfism with microcephaly
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Faciogenital Dysplasia - an overview
Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3‐Dimensional Ultrasonography - Cardalliac - 2018 - Journal of Ultrasound in Medicine - Wiley Online Library
Two adults with Rubinstein–Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers - Wieczorek - 2009 - American Journal of Medical Genetics Part A
Genetic Clinics
MICROCEPHALY jo.pptx
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