Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
about
A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)Pou3f4-mediated regulation of ephrin-b2 controls temporal bone development in the mouse.X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene.
P2860
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P2860
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
description
1992 nî lūn-bûn
@nan
1992 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
@ast
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
@en
type
label
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
@ast
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
@en
prefLabel
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
@ast
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
@en
P2093
P2860
P1476
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)
@en
P2093
Beighton P
Brunner HG
Cremers CW
Cremers FP
Pembrey ME
Ruvalcaba RH
van der Velde-Visser SD
P2860
P407
P577
1992-07-01T00:00:00Z