Schwerhörigkeit, nicht-syndromale sensorineurale, X-chromosomale, Typ DFN

Almoguera B et al. (2014) Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

Petersen MB et al. (2008) Sex-linked deafness.

SATALOFF J et al. (1955) Sex-linked hereditary deafness.

None (1963) Sex-linked deaf-mutism.

None (1958) Congenital deafness due to a sex-linked recessive gene.

None (2000) Genetic causes of hearing loss.

Lalwani AK et al. (1994) A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.

None (1965) Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness.

McRae KN et al. (1969) Sex-linked congenital deafness.

None (1990) Sex linked deafness: Wilde revisited.

Reardon W et al. (1991) A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.

Wellesley D et al. (1992) A new form of X-linked, high-frequency, sensorineural deafness.

Liu X et al. (2010) Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

Cui B et al. (2004) Refinement of the locus for non-syndromic sensorineural deafness (DFN2).

Manolis EN et al. (1999) Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.

Tyson J et al. (1996) Mapping of DFN2 to Xq22.

Robusto M et al. (2015) The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

Synofzik M et al. (2014) X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

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