Delayed Puberty and Anosmia in CHARGE Syndrome: A Case Report*

A 26-year-old female presented to the paediatric clinic at 11 years of age with poor growth. The detection of delayed puberty, anosmia, coloboma and hearing impairment led to a diagnosis of CHARGE syndrome. This was confirmed by a heterogenous de novo pathogenic variant c.6955C >T:p.(Arg2319Cys)...

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Detalles Bibliográficos
Autores principales: Lee, Yee Lin, Toh, Luke, Yap, Fabian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Journal of the ASEAN Federation of Endocrine Societies 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784111/
https://www.ncbi.nlm.nih.gov/pubmed/33442180
http://dx.doi.org/10.15605/jafes.035.01.21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784111/
https://www.ncbi.nlm.nih.gov/pubmed/33442180
http://dx.doi.org/10.15605/jafes.035.01.21

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