Tufting enteropathy with EpCAM mutations in two siblings

Keyphrases

• Gene mutation 100%
• Epithelial Cell Adhesion Molecule (EpCAM) 100%
• Tufting Enteropathy 100%
• Mutation Analysis 20%
• Histology 20%
• Autosomal Recessive 20%
• Exon 3 20%
• Prenatal Diagnosis 20%
• Novel mutation 20%
• Genetic Counseling 20%
• Splicing mutation 20%
• Micrognathia 20%
• Early Onset 20%
• Compound Heterozygous mutation 20%
• Duodenal Biopsy 20%
• Disorganization 20%
• Enterocyte 20%
• Failure to Thrive 20%
• Colon Biopsy 20%
• Juvenile Rheumatoid Arthritis 20%
• Chronic Diarrhea 20%
• Cyclic Parenteral nutrition 20%
• Villous Atrophy 20%
• Nasal Bridge 20%
• Protracted Diarrhea 20%
• Intractable Diarrhea 20%

Medicine and Dentistry

• Gene Mutation 100%
• Enteropathy 100%
• Epithelial Cell Adhesion Molecule 100%
• Diarrhea 40%
• Disorientation 20%
• Intron 20%
• Exon 20%
• Prenatal Diagnosis 20%
• Nonsense Mutation 20%
• Autosomal Recessive Disorder 20%
• Genetic Counseling 20%
• Micrognathism 20%
• Failure to Thrive 20%
• Colon Biopsy 20%
• Juvenile Idiopathic Arthritis 20%
• Chronic Diarrhea 20%
• Intestine Villus Atrophy 20%
• Duodenum Biopsy 20%
• Parenteral Nutrition 20%