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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...

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Detalles Bibliográficos
Autores principales: Shao, Qiao-Yan, Wu, Pei-Lin, Lin, Bi-Yun, Chen, Sen-Jing, Liu, Jian, Chen, Su-Qing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
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