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Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report

BACKGROUND: Coffin-Siris syndrome (CSS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and characteristic facial features. Few patients with cutaneous phenotype in this rare syndrome have been reported. CASE PRESENTATION: Herein, we describe a 12...

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Detalles Bibliográficos
Autores principales: Tao, Dong-Ying, Niu, Huan-Hong, Zhang, Jing-Jing, Zhang, Hui-Qin, Zeng, Ming-Hua, Cheng, Sheng-Quan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9375425/
https://www.ncbi.nlm.nih.gov/pubmed/35964110
http://dx.doi.org/10.1186/s12887-022-03535-4