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Article
Open AccessThe natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis
TMPRSS3-related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies. We conducted a cross-sectional genomics study coupled...
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Article
Open AccessDispersed DNA variants underlie hearing loss in South Florida’s minority population
We analyzed the genetic causes of sensorineural hearing loss in racial and ethnic minorities of South Florida by reviewing demographic, phenotypic, and genetic data on 136 patients presenting to the Hereditary...
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Article
Open AccessCorrection to: Preimplantation genetic testing for hereditary hearing loss in Chinese population
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Article
Open AccessPreimplantation genetic testing for hereditary hearing loss in Chinese population
To evaluate the clinical validity of preimplantation genetic testing (PGT) to prevent hereditary hearing loss (HL) in Chinese population.
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Article
Open AccessNovel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations
Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies.
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Article
De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis
Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS) is characterized by prenatal-onset distended urinary bladder with functional intestinal obstruction, requiring extensive surgical intervention ...
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Article
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians
Mutations in the Connexin 26 (GJB2/Cx26) gene are responsible for more than half of all cases of prelingual non-syndromic recessive deafness in many Caucasian populations. To determine the importance of Cx26 ...
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Article
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations
Waardenburg syndrome (WS) type 1 is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary abnormalities of the eye, hair, and skin, and dystopia canthorum. The phenotype is var...
