Delayed puberty and anosmia in CHARGE syndrome: a case report

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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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Bibliographic Details
Main Authors:	Lee, Yee Lin, Toh, Luke, Yap, Fabian Kok Peng
Format:	Article
Language:	English
Published:	Pasig City 2020
Online Access:	http://psasir.upm.edu.my/id/eprint/88353/ http://psasir.upm.edu.my/id/eprint/88353/1/ABSTRACT.pdf

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