Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
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The role of enterocyte defects in the pathogenesis of congenital diarrheal disordersSyndromic diarrhea/Tricho-hepato-enteric syndromeHuman Mendelian diseases related to abnormalities of the RNA exosome or its cofactorsThe diagnostic approach to monogenic very early onset inflammatory bowel diseaseThe SKIV2L RNA exosome limits activation of the RIG-I-like receptorsExome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidusNovel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With ImmunodeficiDegradation of mRNAs that lack a stop codon: a decade of nonstop progressSyndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.The twisting tale of woolly hair: a trait with many causes.Insight into the RNA Exosome Complex Through Modeling Pontocerebellar Hypoplasia Type 1b Disease Mutations in Yeast.The Contributions of Human Mini-Intestines to the Study of Intestinal Physiology and Pathophysiology.Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.Trichohepatoenteric Syndrome or Syndromic Diarrhea-Report of Three Members in a Family, First Report from Iran.The RNA Exosome Channeling and Direct Access Conformations Have Distinct In Vivo Functions.Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literatureTrichohepatoenteric syndrome: founder mutation in asian indiansThe localisation of the apical Par/Cdc42 polarity module is specifically affected in microvillus inclusion disease.Clinical spectrum of woolly hair: indications for cerebral involvement.Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report.The RNA exosome and RNA exosome-linked disease.Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.Advances in Evaluation of Chronic Diarrhea in Infants.Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.A short splicing isoform of HBS1L links the cytoplasmic exosome and SKI complexes in humans.Novel mutations in TTC37 associated with tricho-hepato-enteric syndromeEpigenome-Wide Analyses Identify Two Novel Associations With Recurrent Stroke in the Vitamin Intervention for Stroke Prevention Clinical TrialClinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome
P2860
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P2860
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
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2010 nî lūn-bûn
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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
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2010年论文
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Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
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Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
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Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
@ast
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
@en
prefLabel
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
@ast
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
@en
P2093
P2860
P50
P1433
P1476
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)
@en
P2093
Alex S Knisely
Ban Dawood
David Chitayat
Deirdre A Kelly
Ian W Booth
Jane Louise Hartley
Julia Forman
Louise Tee
Mark Donowitz
Nicholas C Zachos
P2860
P304
2388-98, 2398.e1-2
P356
10.1053/J.GASTRO.2010.02.010
P407
P577
2010-02-20T00:00:00Z