Keywords (2)

Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene

Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q

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Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene (Citations: 1)


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Journal: American Journal of Medical Genetics Part A - AM J MED GENET PART A , vol. 152A, no. 7, pp. 1798-1802, 2010

DOI: 10.1002/ajmg.a.33464

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References (14)

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene (Citations: 245)

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Journal: Human Molecular Genetics - HUM MOL GENET , vol. 6, no. 12, pp. 2173-2177, 1997

TheGJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness (Citations: 6)

, , , , , , , , , ,

Journal: American Journal of Medical Genetics Part A - AM J MED GENET PART A , vol. 137A, no. 2, pp. 225-227, 2005

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma (Citations: 118)

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Journal: Human Genetics - HUM GENET , vol. 103, no. 4, pp. 393-399, 1998

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350) (Citations: 47)

, , ,

Journal: Journal of Medical Genetics - J MED GENET , vol. 37, no. 1, pp. 50-51, 2000

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family: A GJB2 mutation causes deafness and PPK (Citations: 15)

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Journal: Clinical Genetics - CLIN GENET , vol. 62, no. 4, pp. 306-309, 2002

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Citations (1)

Effect of X-ray energy and ionization time on the charging performance and nanoparticle formation of a soft X-ray photoionization charger

, , , ,

Journal: Advanced Powder Technology - ADVANCED POWDER TECHNOL , vol. 20, no. 6, pp. 529-536, 2009


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