Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.
about
Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reportsClinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4qLinkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.Wolfram (DIDMOAD) syndrome.Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families.Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan.
P2860
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P2860
Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.
description
1986 nî lūn-bûn
@nan
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
1986年论文
@zh
1986年论文
@zh-cn
name
Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.
@en
Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.
@nl
type
label
Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.
@en
Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.
@nl
prefLabel
Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.
@en
Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.
@nl
P2093
P356
P1433
P1476
Wolfram's syndrome: a clinical, diagnostic, and interpretative contribution.
@en
P2093
P304
P356
10.2337/DIACARE.9.5.521
P407
P577
1986-09-01T00:00:00Z