Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

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Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.Novel EYA1 variants causing Branchio-oto-renal syndrome.

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Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

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Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

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Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

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Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

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Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

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P2860

CHARGE syndrome: an update

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

Nonsyndromic hearing impairment: unparalleled heterogeneity

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

LEOPARD syndrome: clinical diagnosis in the first year of life

Pendred syndrome: Phenotypic variability in two families carrying the samePDS missense mutation

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Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

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P2860

P2860

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

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