Alström syndrome

European Journal of Human Genetics

Volumn 15, Issue 12, 2007, Pages 1193-1202

  Marshall, Jan D ^a   Beck, Sebastian ^b,c   Maffei, Pietro ^d   Naggert, Jürgen K ^a  

^a JACKSON LABORATORY   (United States)

^b UNIVERSITY OF GREIFSWALD   (Germany)

^c CGC GENETICS   (Portugal)

^d UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

2,4 THIAZOLIDINEDIONE DERIVATIVE; ALMS1 PROTEIN; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CHROMOSOME PROTEIN; DIGITALIS; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DIURETIC AGENT; ESTROGEN DERIVATIVE; ESTROGEN PROGESTAGEN; GLUCOSE; GROWTH HORMONE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; INSULIN; INSULIN SENSITIZING AGENT; LEVOTHYROXINE; METFORMIN; NICOTINIC ACID; SPIRONOLACTONE; TESTOSTERONE; UNCLASSIFIED DRUG;

ALSTROM SYNDROME; ANTHROPOMETRY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; BONE DISEASE; CHROMOSOME 2P; CLINICAL FEATURE; COLOR BLINDNESS; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; EARLY DIAGNOSIS; ENDOCRINE DISEASE; EXERCISE; FRAMESHIFT MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HEARING AID; HEART LUNG TRANSPLANTATION; HORMONE SUBSTITUTION; HUMAN; HYPERANDROGENISM; HYPERGLYCEMIA; HYPERINSULINEMIA; HYPERLIPIDEMIA; HYPERTENSION; HYPERTRIGLYCERIDEMIA; HYPOGONADISM; HYPOTHYROIDISM; INCIDENCE; INSULIN RESISTANCE; KIDNEY DYSFUNCTION; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LEBER CONGENITAL AMAUROSIS; LIVER DYSFUNCTION; LIVER FAILURE; LONGEVITY; LOW FAT DIET; LUNG DISEASE; LUNG FIBROSIS; LUNG INFECTION; MENSTRUAL IRREGULARITY; METABOLIC DISORDER; MOLECULAR GENETICS; NON INSULIN DEPENDENT DIABETES MELLITUS; NONSENSE MUTATION; NYSTAGMUS; OBESITY; PERCEPTION DEAFNESS; PHENOTYPE; PHOTOPHOBIA; PORTAL HYPERTENSION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; PSYCHOMOTOR RETARDATION; QUALITY OF LIFE; RETINA DYSTROPHY; SHORT STATURE; SURVIVAL; URINARY TRACT DISEASE; URINARY TRACT INFECTION; WEIGHT REDUCTION; WOLFRAM SYNDROME;

ABNORMALITIES, MULTIPLE; DIAGNOSIS, DIFFERENTIAL; FOLLOW-UP STUDIES; GENETIC COUNSELING; HUMANS; MUTATION; SYNDROME;

EID: 36349032239     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201933     Document Type: Article

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