PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
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Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300
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De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
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Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
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(PDF) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
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