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Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report

BACKGROUND: The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes. CASE PRESENTATION: This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcepha...

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Detalles Bibliográficos
Autores principales:	Dai, Jincheng, Zeng, Jun, Tan, Hongxi, Cai, Xiangsheng, Wu, Benqing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169259/ https://www.ncbi.nlm.nih.gov/pubmed/35668409 http://dx.doi.org/10.1186/s12920-022-01274-0

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