Trichohepatoenteric syndrome: Founder mutation in Asian Indians

Molecular Syndromology

Volumn 3, Issue 2, 2012, Pages 89-93

  Kotecha, U H ^a   Movva, S ^a   Puri, R D ^a   Verma, I C ^a  

^a SIR GANGA RAM HOSPITAL   (India)

Author keywords

Dysmorphism; Founder Mutation; Gujarat; Hair changes; India; Liver hemangiomas; Phenotypic diarrhea; Syndromic diarrhea

Indexed keywords

ALANINE AMINOTRANSFERASE; COPPER;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ATROPHIC GASTRITIS; BIRTH WEIGHT; CHILD; CHRONIC HEPATITIS; CLINICAL ARTICLE; DIARRHEA; DUODENITIS; ENTEROPATHY; FACE DYSMORPHIA; GENE; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPERPLASIA; INDIAN; INFLAMMATORY INFILTRATE; INTESTINE VILLUS ATROPHY; LAMINA PROPRIA; LIVER BIOPSY; LIVER CIRRHOSIS; LIVER HEMANGIOMA; LOWER RESPIRATORY TRACT INFECTION; MALE; PAKISTAN; PATENT FORAMEN OVALE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; STOMACH BIOPSY; TETRATRICOPEPTIDE REPEAT DOMAIN 37 GENE; TRICHOHEPATOENTERIC SYNDROME;

EID: 84865329623     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000339896     Document Type: Article

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