4 Newborn with Rubinstein-Taybi syndrome showing microcephaly
Por um escritor misterioso
Last updated 09 abril 2025


Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications

Rubinstein-Taybi Syndrome: A case report

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Rubinstein-Taybi Syndrome

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

Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3‐Dimensional Ultrasonography - Cardalliac - 2018 - Journal of Ultrasound in Medicine - Wiley Online Library

File:Rubinstein-Taybi Syndrome1.jpg - Wikipedia
Rubinstein Taybi California

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Genetic Clinics

Causes of microcephaly.

a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening

12 Patient with osteodysplastic primordial dwarfism with microcephaly
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