Genetic characterization of congenital tufting enteropathy: Epcam associated phenotype and involvement of SPINT2 in the syndromic form

Human Genetics

Volumn 133, Issue 3, 2014, Pages 299-310

  Salomon, Julie ^a,b   Goulet, Olivier ^a,b   Canioni, Danielle ^a   Brousse, Nicole ^a   Lemale, Julie ^c   Tounian, Patrick ^c   Coulomb, Aurore ^c   Marinier, Evelyne ^d   Hugot, Jean Pierre ^d   Ruemmele, Frank ^a,b   Dufier, Jean Louis ^a   Roche, Olivier ^a   Bodemer, Christine ^a   Colomb, Virginie ^a   Talbotec, Cécile ^a   Lacaille, Florence ^a   Campeotto, Florence ^a   Cerf Bensussan, Nadine ^b   Janecke, Andreas R ^e   Mueller, Thomas ^e   Koletzko, Sibylle ^f   Bonnefont, Jean Paul ^b   Lyonnet, Stanislas ^b   Munnich, Arnold ^b   Poirier, Françoise ^g   Smahi, Asma ^b   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b IMAGINE INSTITUTE   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^f LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^g INSTITUT JACQUES MONOD   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ANTIGENS, NEOPLASM; BASE SEQUENCE; CASE-CONTROL STUDIES; CELL ADHESION MOLECULES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DIARRHEA, INFANTILE; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MALABSORPTION SYNDROMES; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; PARENTERAL NUTRITION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TREATMENT OUTCOME;

EID: 84894418408     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1380-6     Document Type: Article

References (17)

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