Hardikar syndrome: Long term outcome of a rare genetic disorder

American Journal of Medical Genetics, Part A

Volumn 146, Issue 19, 2008, Pages 2468-2472

  Nydegger, Andreas ^a,b   Van Dyck, Maria ^c   Fisher, Robert A ^d   Jaeken, Jaak ^c   Hardikar, Winita ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cholestasis; Cleft lip; Liver transplantation; Pigmentary retinopathy; Vesico ureteral reflux

Indexed keywords

ANTIBIOTIC AGENT; IRON;

ABDOMINAL PAIN; ADULT; ARTICLE; CASE REPORT; CELIAC DISEASE; CHOLANGIOGRAPHY; CHOLESTASIS; CLEFT LIP; CLEFT PALATE; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GASTROTOMY; GENETIC DISORDER; GROWTH RETARDATION; HARDIKAR SYNDROME; HEPATOMEGALY; HUMAN; HUMAN TISSUE; HYDRONEPHROSIS; INTRAVENOUS PYELOGRAPHY; IRON DEFICIENCY; IRRITABILITY; KIDNEY FUNCTION; LIVER BIOPSY; LIVER FUNCTION TEST; MALFORMATION SYNDROME; MANOMETRY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT FORAMEN OVALE; PIGMENT DISORDER; PRIORITY JOURNAL; PULMONARY ARTERY STENOSIS; RETINA PIGMENTATION; STOMACH FUNDOPLICATION; URETEROSTOMY; URINARY TRACT INFECTION; VOMITING;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CLEFT LIP; CLEFT PALATE; FEMALE; FOLLOW-UP STUDIES; GASTROINTESTINAL DISEASES; HUMANS; KIDNEY; KIDNEY DISEASES; LIVER; LIVER DISEASES; QUALITY OF LIFE; RARE DISEASES; SYNDROME; TIME FACTORS; TREATMENT OUTCOME;

EID: 55449119713     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32226     Document Type: Article

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