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Article

Single-Gene Deletion of FGF3 in a Patient With Features of 11q13 Microdeletion Syndrome.

American journal of medical genetics. Part A - 1 Jun 2025

Rahi Hamed, Dickson Patricia I, Toler Tomi L, Corliss Meagan M, Cao Yang

Abstract excerpt

Chromosome 11q13 microdeletion syndrome, or otodental syndrome, involves dental, auditory, and ocular anomalies linked to deletions in the 11q13.2q13.4 region. We report a 1-year-old girl with a 43 kb deletion of the FGF3 gene on chromosome 11q13.3, exhibiting otodental dysplasia, hearing difficulty, and developmental delay. Her family history includes permanent childhood hearing loss and otodental syndrome....

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Identifiers

PMID: 39976283
DOI: 10.1002/ajmg.a.64025

Genes

FGF3

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Single-Gene Deletion of FGF3 in a Patient With Features of 11q13 Microdeletion Syndrome.PMID 39976283Read ↗

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