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Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature
BACKGROUND: Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. CASE PRESENTATION: Our patient presented with specific facial features, hypoparathyroidism, sen...
Autores principales: | Shao, Qiao-Yan, Wu, Pei-Lin, Lin, Bi-Yun, Chen, Sen-Jing, Liu, Jian, Chen, Su-Qing |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8164295/ https://www.ncbi.nlm.nih.gov/pubmed/34049562 http://dx.doi.org/10.1186/s13039-021-00546-1 |
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