In:
American Journal of Medical Genetics, Wiley, Vol. 115, No. 1 ( 2002-05-30), p. 61-65
Abstract:
Wolfram syndrome is an autosomal recessive disorder with probable locus heterogeneity. Only insulin‐dependent diabetes mellitus and progressive optic‐nerve atrophy are necessary to make the diagnosis, but associated findings include diabetes insipidus, sensorineural hearing loss, ataxia, peripheral neuropathy, urinary‐tract atony, and psychiatric illnesses. We performed clinical and molecular studies on four consanguineous families with 16 affected individuals. We point out a new phenotypic variant with absent diabetes insipidus, presence of peptic ulcer disease and bleeding tendency secondary to a platelet aggregation defect. The same phenotypic variant turned out to be a genotypic variant with linkage to a second Wolfram syndrome locus (WFS2) on chromosome 4q22–24. © 2002 Wiley‐Liss, Inc.
Type of Medium:
Online Resource
ISSN:
0148-7299
,
1096-8628
Language:
English
Publisher:
Wiley
Publication Date:
2002
detail.hit.zdb_id:
2143866-3
detail.hit.zdb_id:
2143867-5
detail.hit.zdb_id:
1493479-6
detail.hit.zdb_id:
2205916-7
SSG:
12
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