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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Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Novel missense COL2A1 variant in a fetus with achondrogenesis type II
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
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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Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity
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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Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Otopalatodigital Syndrome, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Effect of urokinase-type plasminogen activator (uPA) on the contraction
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
COL4A2 mutation associated with familial porencephaly and small-vessel disease
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
Identification of de novo EP300 and PLAU variants in a patient with  Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal  anomaly
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
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