Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome

Human Mutation

Volumn 32, Issue 3, 2011, Pages 277-281

  Fabre, Alexandre ^a   Martinez Vinson, Christine ^b   Roquelaure, Bertrand ^a   Missirian, Chantal ^a   André, Nicolas ^a   Breton, Anne ^c   Lachaux, Alain ^d   Odul, Egritas ^e   Colomb, Virginie ^f   Lemale, Julie ^g   Cézard, Jean Pierre ^b   Goulet, Olivier ^f   Sarles, Jacques ^a   Levy, Nicolas ^a,h   Badens, Catherine ^a,h  

^a TIMONE HOSPITAL   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c Universitaire de Toulouse   (France)

^d HOSPICES CIVILS DE LYON   (France)

^e GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h INSERM   (France)

Author keywords

Intractable diarrhea; Stankler syndrome; Syndromic diarrhea; Tricho hepato enteric syndrome; TTC37; Woolly hair

Indexed keywords

PROTEIN; PROTEIN THESPIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPOPHYSIS; INTESTINE; LUNG; LYMPH NODE; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; STOP CODON; TRICHO HEPATO ENTERIC SYNDROME; VASCULAR TISSUE;

CARRIER PROTEINS; CHILD; CODON, NONSENSE; DIARRHEA; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION PROFILING; GENETIC DISEASES, INBORN; HAIR; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MUTATION, MISSENSE; PHENOTYPE; PROTEIN ISOFORMS; SYNDROME;

EID: 79951786877     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21420     Document Type: Article

References (10)

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