Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005

Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005

Item
http://www.wikidata.org/entity/Q28266962
Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndromeIdentification of AAAS gene mutation in Allgrove syndrome: A report of three cases.Longitudinal neuropsychological profile in a patient with triple a syndrome.A Novel V185DfsX4 Mutation of the AAAS Gene in a 2-year-old Boy with Triple A SyndromeTriple A (Allgrove) syndrome: an unusual association with syringomyelia."patients can have as many gene variants as they damn well please": why contemporary genetics presents us daily with a version of Hickam's dictum.Genetic evaluation of ALADIN gene in early-onset achalasia and alacrima patients.Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.Triple A syndrome in Japan.Phenotype-genotype spectrum of AAA syndrome from Western India and systematic review of literature.Achalasia: Outcome in children."Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.AAA Syndrome, Case Report of a Rare Disease.Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology.Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?
P2860

Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005

Item
http://www.wikidata.org/entity/Q28266962
description
2005 nî lūn-bûn
@nan
2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2005年の論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年論文
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2005年论文
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name
Genotypic heterogeneity and cl ...... f the NIH experience 2000-2005
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Genotypic heterogeneity and cl ...... f the NIH experience 2000-2005
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Genotypic heterogeneity and cl ...... f the NIH experience 2000-2005
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Genotypic heterogeneity and cl ...... f the NIH experience 2000-2005
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Genotypic heterogeneity and cl ...... f the NIH experience 2000-2005
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Genotypic heterogeneity and cl ...... f the NIH experience 2000-2005
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Genotypic heterogeneity and cl ...... f the NIH experience 2000-2005
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Genotypic heterogeneity and cl ...... f the NIH experience 2000-2005
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Genotypic heterogeneity and cl ...... f the NIH experience 2000-2005
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Genotypic heterogeneity and cl ...... f the NIH experience 2000-2005
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10.1111/J.1399-0004.2005.00482.X
P407
P433
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P698