Spinal muscular atrophy type I combined with atrial septal defect in three sibs

Clinical Genetics

Volumn 38, Issue 2, 1990, Pages 81-83

  Moller P ^a,b   Moe, N ^a,b   Saugstad, O D ^a,b   Skullerud, K ^a,b   Velken, M ^a,b   Berg, K ^a,b   Nitter Hauge S ^a,b   Borresen A L ^a,b  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b Central Hospital of Vest Agder   (Norway)

Author keywords

arrhinencephaly; atrial septal defect; SMA I; spinal muscular atrophy; Werdnig Hoffman disease

Indexed keywords

ARTICLE; AUTOPSY; CASE REPORT; FEMALE; HEART ATRIUM SEPTUM DEFECT; HEREDITY; HUMAN; MALE; PRIORITY JOURNAL; SIBLING; SPINAL MUSCULAR ATROPHY; WERDNIG HOFFMANN DISEASE;

ABNORMALITIES, MULTIPLE; ANTERIOR HORN CELLS; BRAIN; CASE REPORT; FEMALE; HEART SEPTAL DEFECTS, ATRIAL; HUMAN; INFANT; INFANT, NEWBORN; MALE; MUSCLES; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SPINAL NERVE ROOTS;

EID: 0025310718     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1990.tb03553.x     Document Type: Article

References (7)

1. Genetic linkage as a source of clinical variation in inherited disorders
2. Familial risks of congenital heart defect assessed in a population‐based epidemiologic study
3. Unusual pedigree patterns in seven families with spinal muscular atrophy; further evidence for the allelic model hypothesis
4. Birth fractures in spinal muscular atrophy
5. Congenital heart defects
6. Spinal muscular atrophies