Article
Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene.
BMC medical genomics - 15 Nov 2024
Kjellgren Åsa, Lundgren Elenor, Golovleva Irina, Kriström Berit, Werner Mimmi
Abstract excerpt
BACKGROUND: LHX3 is a gene encoding a LIM-homeodomain transcription factor important for the fetal development of several organs, such as the pituitary gland, spinal motor neurons and the inner ear. Pathogenic and likely pathogenic variants in the LHX3 gene are infrequent and result in a rare syndrome known as combined pituitary hormone deficiency-3, CPHD3. METHODS: We have studied hearing and vestibular...
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