A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.
about
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsA new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.Nonsyndromic hearing impairment: unparalleled heterogeneityPrenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
P2860
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.
description
1994 nî lūn-bûn
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1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
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1994年の論文
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1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
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1994年论文
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name
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.
@ast
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.
@en
type
label
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.
@ast
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.
@en
prefLabel
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.
@ast
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.
@en
P2093
P2860
P1476
A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.
@en
P2093
Brister JR
Grundfast KM
Lalwani AK
San Agustin T
P2860
P304
P407
P577
1994-10-01T00:00:00Z