4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Por um escritor misterioso
Last updated 04 março 2025


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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