A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation
Author:
Affiliation:
1. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Publisher
Korean Pediatric Society
Subject
Pediatrics,Pediatrics, Perinatology and Child Health
Link
http://kjp.or.kr/upload/pdf/kjped-53-718.pdf
Reference18 articles.
1. Broad Thumbs and Toes and Facial Abnormalities
2. Rubinstein–Taybi syndrome
3. Confirmation of assigment of a locus for rubinstein-taybi syndrome gene to 16p13.3
4. Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
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3. A Case Report of Rubinstein-Taybi Syndrome Presented with Extensive Keloid Formation and Review of Literature;Annals of Dermatology;2023
4. Paraovarian Cyst Torsion in a Patient with Rubinstein-Taybi Syndrome: A Case Report;Journal of Nippon Medical School;2021-06-25
5. Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach;American Journal of Medical Genetics Part B: Neuropsychiatric Genetics;2018-04-10
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