Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis
Author:
Publisher
Elsevier BV
Subject
Dermatology,Molecular Biology,Biochemistry
Reference10 articles.
1. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS;Bartsch;Hum. Genet.,2005
2. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease;Roelfsema;Am. J. Hum. Genet.,2005
3. Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients;Spena;Clin. Genet.,2015
4. Multiple pilomatricomas in Rubinstein-Taybi syndrome: a case report;Cambiaghi;Pediatr. Dermatol.,1994
5. Pilomatrixomas in Rubinstein-Taybi syndrome;Masuno;Am. J. Med. Genet.,1998
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1. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement;Journal of Medical Genetics;2024-03-12
2. Dermatological findings in Rubinstein-Taybi Syndrome;Italian Journal of Dermatology and Venereology;2023-08
3. A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome;JSES International;2023-07
4. Cytomorphological spectrum of pilomatricoma – A series of 28 cases;Cytopathology;2023-03-07
5. Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene;Frontiers in Pediatrics;2023-03-03
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