Literature DB >> 7398111

Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism.

F E O'Donnell, W R Green, V A McKusick, H Forsius, A W Eriksson.   

Abstract

On the basis of clinical data, it had previously been proposed that the Forsius-Eriksson syndrome is identical to Nettleship-Falls X-linked ocular albinism. We performed biopsies of clinically-normal skin in patients with the Forsius-Eriksson syndrome to look for the abnormal melanosomes characteristic of Nettleship-Falls X-linked ocular albinism. There were no abnormalities in the melanosomes of patients with Forsius-Eriksson syndrome. Thus, this syndrome is distinct from the Nettleship-Falls disorder.

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Year:  1980        PMID: 7398111     DOI: 10.1111/j.1399-0004.1980.tb00170.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Localization of the Aland Island eye disease locus to the pericentromeric region of the X chromosome by linkage analysis.

Authors:  T Alitalo; T A Kruse; H Forsius; A W Eriksson; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

2.  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

3.  Clinical features of affected males with X linked ocular albinism.

Authors:  S J Charles; J S Green; J W Grant; J R Yates; A T Moore
Journal:  Br J Ophthalmol       Date:  1993-04       Impact factor: 4.638

4.  OA1 mutations and deletions in X-linked ocular albinism.

Authors:  R E Schnur; M Gao; P A Wick; M Keller; P J Benke; M J Edwards; A W Grix; A Hockey; J H Jung; K K Kidd; M Kistenmacher; A V Levin; R A Lewis; M A Musarella; R W Nowakowski; S J Orlow; R S Pagon; D A Pillers; H H Punnett; G E Quinn; K Tezcan; J Wagstaff; R G Weleber
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

  4 in total

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