Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report
about
A novel AAAS gene mutation (p.R194X) in a patient with triple A syndromeThe triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex4A syndrome: ocular surface investigation in an Italian young patient.[Congenital alacrima revealing a Allgrove syndrome: report of three cases].Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families.Longitudinal neuropsychological profile in a patient with triple a syndrome.Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.Neurological features in adult Triple-A (Allgrove) syndrome.The eye as a window to rare endocrine disorders.A 12 year old boy with recurrent episodes of pneumonia: triple A syndromePhenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.
P2860
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P2860
Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report
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2004 թուականին հրատարակուած գիտական յօդուած
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Triple-A syndrome with promine ...... n the AAAS gene: a case report
@ast
Triple-A syndrome with promine ...... n the AAAS gene: a case report
@en
Triple-A syndrome with promine ...... n the AAAS gene: a case report
@en-gb
Triple-A syndrome with promine ...... n the AAAS gene: a case report
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Triple-A syndrome with promine ...... n the AAAS gene: a case report
@ast
Triple-A syndrome with promine ...... n the AAAS gene: a case report
@en
Triple-A syndrome with promine ...... n the AAAS gene: a case report
@en-gb
Triple-A syndrome with promine ...... n the AAAS gene: a case report
@nl
altLabel
Triple-A syndrome with promine ...... in the AAASgene: a case report
@en
prefLabel
Triple-A syndrome with promine ...... n the AAAS gene: a case report
@ast
Triple-A syndrome with promine ...... n the AAAS gene: a case report
@en
Triple-A syndrome with promine ...... n the AAAS gene: a case report
@en-gb
Triple-A syndrome with promine ...... n the AAAS gene: a case report
@nl
P2093
P2860
P356
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P1476
Triple-A syndrome with promine ...... n the AAAS gene: a case report
@en
P2093
Brian P Brooks
Caroline Stuart
Constantine A Stratakis
Jonathan Ludlow
Rafael C Caruso
Robert Kleta
P2860
P2888
P356
10.1186/1471-2415-4-7
P407
P577
2004-01-01T00:00:00Z
P5875
P6179
1037176723