Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation
about
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case reportThe triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complexNeurological features in adult Triple-A (Allgrove) syndrome.Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
P2860
Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation
description
2004 nî lūn-bûn
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2004 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի մարտին հրատարակված գիտական հոդված
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2004年の論文
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2004年論文
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2004年論文
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2004年論文
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2004年論文
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2004年論文
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2004年论文
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name
Myoclonus and generalized dige ...... ndrome with AAAS gene mutation
@ast
Myoclonus and generalized dige ...... ndrome with AAAS gene mutation
@en
Myoclonus and generalized dige ...... ndrome with AAAS gene mutation
@nl
type
label
Myoclonus and generalized dige ...... ndrome with AAAS gene mutation
@ast
Myoclonus and generalized dige ...... ndrome with AAAS gene mutation
@en
Myoclonus and generalized dige ...... ndrome with AAAS gene mutation
@nl
prefLabel
Myoclonus and generalized dige ...... ndrome with AAAS gene mutation
@ast
Myoclonus and generalized dige ...... ndrome with AAAS gene mutation
@en
Myoclonus and generalized dige ...... ndrome with AAAS gene mutation
@nl
P2093
P50
P356
P1433
P1476
Myoclonus and generalized dige ...... ndrome with AAAS gene mutation
@en
P2093
Anna Tullio-Pelet
Anne Roubergue
Cyril Mignot
Emmanuelle Apartis
P356
10.1002/MDS.10660
P407
P577
2004-03-01T00:00:00Z