Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular β24 integrin mutation

Journal of Pediatric Gastroenterology and Nutrition

Volumn 47, Issue 5, 2008, Pages 585-591

  Salvestrini, Camilla ^a   Mcgrath, John A ^a   Ozoemena, Linda ^b   Husain, Khaled ^c   Buhamrah, Eman ^c   Sabery, Nasim ^d   Leichtner, Alan ^d   Rufo, Paul A ^d   Perez Atayde, Antonio ^d   Orteu, Cate H ^a   Torrente, Franco ^a   Heuschkel, Robert B ^a   Thomson, Michael A ^e   Murch, Simon H ^f  

^a ROYAL FREE HOSPITAL   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c AL AMIRI HOSPITAL   (Kuwait)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^f UNIVERSITY OF WARWICK   (United Kingdom)

Author keywords

6 b4 integrins; Epidermolysis bullosa; Protein losing enteropathy

Indexed keywords

ALBUMIN; ALPHA6 INTEGRIN; AZATHIOPRINE; BETA4 INTEGRIN; COMPLEMENT COMPONENT C1Q; CORTICOSTEROID; HEPARIN; HLA DR ANTIGEN; IMMUNOGLOBULIN; IMMUNOGLOBULIN G; ISOLEUCINE;

ARTICLE; ATRESIA; BASEMENT MEMBRANE; CASE REPORT; COLON; DEATH; DESQUAMATIVE ENTEROPATHY; DIARRHEA; DUODENUM; ENTEROPATHY; FEMALE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOMODULATION; INFANT; INTESTINE BIOPSY; INTESTINE EPITHELIUM; KUWAIT; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OBSTRUCTIVE UROPATHY; PARENTERAL NUTRITION; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOSING GASTROENTEROPATHY; PYLORIC ATRESIA; RELAPSE; SERUM; SIBLING; SKIN BIOPSY; SKIN DISEASE; SKIN EPITHELIUM; SMALL INTESTINE; VIRUS INFECTION; CONGENITAL MALFORMATION; DIGESTIVE SYSTEM MALFORMATION; ENTERITIS; EPIDERMOLYSIS BULLOSA; GENETICS; INTESTINE; INTESTINE MUCOSA; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; PYLORUS; SKIN;

DIARRHEA; DIGESTIVE SYSTEM ABNORMALITIES; ENTERITIS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; HUMANS; INFANT; INTEGRIN BETA4; INTESTINAL MUCOSA; INTESTINES; MUTATION; PARENTERAL NUTRITION; PYLORUS; SKIN;

EID: 59849129866     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31817af98d     Document Type: Article

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