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Article

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.

Pediatrics - 1 Dec 2010

Dauber Andrew, Hirschhorn Joel N, Picker Jonathan, Maher Thomas A, Milunsky Aubrey

Abstract excerpt

We report the case of a 15-year-old girl who presented to a pediatric endocrinology clinic for delayed puberty with no signs of secondary sexual development. Her past medical history was significant for bilateral colobomas, inner-ear anomalies, hearing loss, and anosmia. Genetic testing revealed...

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Source

Identifiers

PMID: 21041284
DOI: 10.1542/peds.2010-0164

Genes

CHD7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21041284-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.PMID 21041284Read ↗

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