Familial variable expression of dilated cardiomyopathy in Alström syndrome: A report of four sibs

American Journal of Medical Genetics

Volumn 135 A, Issue 1, 2005, Pages 96-98

  Hoffman, J D ^a   Jacobson, Z ^a   Young, T L ^a   Marshall, J D ^b   Kaplan, Paige ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b JACKSON LABORATORY   (United States)

Author keywords

Alstr m syndrome; Dilated cardiomyopathy; Obesity; Pigmentary retinopathy

Indexed keywords

ALSTROM SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONGESTIVE CARDIOMYOPATHY; DIABETES MELLITUS; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; HUMAN; HYPOGONADISM; INFANT; INSULIN RESISTANCE; KIDNEY FAILURE; MALE; MORBID OBESITY; NYSTAGMUS; ONSET AGE; PERCEPTION DEAFNESS; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; RETINOPATHY; SCHOOL CHILD; SIBLING; SYMPTOMATOLOGY; VISUAL IMPAIRMENT;

ABNORMALITIES, MULTIPLE; CARDIOMYOPATHY, DILATED; CHILD; CHROMOSOMES, HUMAN, PAIR 2; EYE DISEASES; FAMILY HEALTH; FATAL OUTCOME; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; HYPOGONADISM; INFANT; MALE; MICROSATELLITE REPEATS; PEDIGREE; PROTEINS; SIBLINGS; SYNDROME;

EID: 18244407322     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30688     Document Type: Article

References (5)

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