New recessive syndrome characterized by increased chromosomal breakage and several findings which overlap with Fanconi anemia

American Journal of Medical Genetics

Volumn 78, Issue 1, 1998, Pages 70-75

  Giampietro, Philip F ^a,b,e   Auerbach, Arleen D ^c   Elias, Ellen R ^d   Gutman, Alyson ^b   Zellers, Nancy J ^b   Davis, Jessica G ^b  

^a Lincoln Hospital   (United States)

^b WEILL CORNELL MEDICAL CENTER   (United States)

^c ROCKEFELLER UNIVERSITY   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

Chromosomal breakage; Congenital abnormalities; Fanconi anemia; Short stature; Thumb abnormalities

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DEVELOPMENT; CASE REPORT; CHILD; CHROMOSOME BREAKAGE; CROSS LINKING; FAILURE TO THRIVE; FANCONI ANEMIA; FEMALE; HUMAN; HYDROCEPHALUS; INFANT; INTRAUTERINE GROWTH RETARDATION; MALE; PRIORITY JOURNAL; SHORT STATURE; SKIN FIBROBLAST; SKIN PIGMENTATION; THUMB MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; FANCONI ANEMIA; FEMALE; FETAL GROWTH RETARDATION; GROWTH DISORDERS; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; MALE; PREGNANCY; SYNDROME;

EID: 0031839754     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980616)78:1<70::AID-AJMG15>3.0.CO;2-L     Document Type: Article

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