Silver Russell Syndrome: Most Up-to-Date Encyclopedia, News & Reviews

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A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author

Legius Syndrome - an overview

Cockayne Syndrome: Most Up-to-Date Encyclopedia, News & Reviews

Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Rubinstein-Taybi syndrome: principal oral and dental disorders and