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Article

BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.

Clinical genetics - 1 May 2017

Jee Y H, Sowada N, Markello T C, Rezvani I, Borck G, Baron J

Abstract excerpt

Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature but also other organs/tissues causing additional clinical abnormalities. A 10-year old boy was evaluated for impaired postnatal linear growth (height 113.3 cm, -4.6 SDS), a bone age that was delayed by 5 years, dysmorphic facies, cognitive...

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Source

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Identifiers

PMID: 27748960
DOI: 10.1111/cge.12887
PMCID: PMC5389939

Genes

BRF1
SDS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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