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2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis
Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a characteristic facial appearance, and autism spectrum disorder. Here, we report on a patien...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Society of Pediatric Endocrinology
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495980/ https://www.ncbi.nlm.nih.gov/pubmed/28690993 http://dx.doi.org/10.6065/apem.2017.22.2.129 |