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

Internet

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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