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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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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 |