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rubinstein taybi genereviews
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring
Rubinstein–Taybi syndrome in diverse populations - Tekendo
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
PDF) Identification of de novo EP300 and PLAU variants in a
Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome - Chiang - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library
Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf
Robinow Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
PDF) The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature
Silver Russell Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
(PDF) Identification of de novo EP300 and PLAU variants in a
Legius Syndrome - an overview
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Rubinstein–Taybi syndrome - Wikipedia
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
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