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First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.
Wang, L; Deng, Y; Zhou, X-L; Ma, J J; Li, W.
Affiliation
  • Wang L; Department of Dermatology, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.
  • Deng Y; National Office for Maternal and Child Health Surveillance of China, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
  • Zhou XL; Laboratory of Molecular Epidemiology for Birth Defects, West China Institute of Women and Children's Health, Sichuan University, Chengdu, China.
  • Ma JJ; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
  • Li W; Department of Dermatology, Rare Diseases Center, West China Hospital, Sichuan University, Chengdu, China.
Clin Exp Dermatol ; 44(5): e205-e208, 2019 Jul.
Article in En | MEDLINE | ID: mdl-30614040
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rubinstein-Taybi Syndrome / Skin Diseases / CREB-Binding Protein Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: Clin Exp Dermatol Year: 2019 Type: Article Affiliation country: China
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rubinstein-Taybi Syndrome / Skin Diseases / CREB-Binding Protein Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Child / Humans / Male Language: En Journal: Clin Exp Dermatol Year: 2019 Type: Article Affiliation country: China