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2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report
BACKGROUND: 2q37 deletion syndrome is a rare autosomal dominant disorder caused by deletions in the 2q37 cytobands leading to developmental delay, intellectual disability, behavioral abnormalities and dysmorphic craniofacial features with more than 115 patients described worldwide. CASE PRESENTATION...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9531440/ https://www.ncbi.nlm.nih.gov/pubmed/36192675 http://dx.doi.org/10.1186/s12887-022-03620-8 |