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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| Main Authors: | , , |
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| Format: | Article |
| Language: | en |
| Published: |
Pasig City
2020
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| Online Access: | http://psasir.upm.edu.my/id/eprint/88353/1/ABSTRACT.pdf http://psasir.upm.edu.my/id/eprint/88353/ https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784111/ |
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