Literature DB >> 6542750

X-linked inheritance of ocular albinism with late-onset sensorineural deafness.

I Winship, G Gericke, P Beighton.   

Abstract

We have investigated a large Afrikaner kindred in which seven males had ocular albinism and late-onset sensorineural deafness (OASD). The pattern of inheritance of OASD is X-linked recessive. To the best of our knowledge, this association has not previously been reported and in order to establish syndromic identity we describe and discuss the condition in this article.

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Year:  1984        PMID： 6542750     DOI： 10.1002/ajmg.1320190421

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 in total

1.  An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.

Authors:  R E Schnur; B J Trask; G van den Engh; H H Punnett; M Kistenmacher; M A Tomeo; R E Naids; R L Nussbaum
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

2.  Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I.

Authors:  Y Shiloh; G Litvak; Y Ziv; T Lehner; L Sandkuyl; M Hildesheimer; V Buchris; F P Cremers; P Szabo; B N White
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

Review 3.  Pigmentation and vision: Is GPR143 in control?

Authors:  Brian S McKay
Journal:  J Neurosci Res       Date:  2018-05-14       Impact factor: 4.164

4.  X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.

Authors:  M T Bassi; R S Ramesar; B Caciotti; I M Winship; A De Grandi; M Riboni; P L Townes; P Beighton; A Ballabio; G Borsani
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025
  4 in total

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