Collagen XVIII mutation in Knobloch syndrome with acute lymphoblastic leukemia

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2875-2879

  Mahajan, Vinit B ^a   Olney, Ann Haskins ^b   Garrett, Penny ^c   Chary, Ajit ^d   Dragan, Ecaterina ^e   Lerner, Gary ^f   Murray, Jeffrey ^e   Bassuk, Alexander G ^e  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c Iowa Education Agency   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

^e UNIVERSITY OF IOWA   (United States)

^f Children's Hospital   (United States)

Author keywords

Acute lymphoblastic leukemia; Collagen XVIII; Endostatin; Knobloch; Retinal degeneration

Indexed keywords

COLLAGEN TYPE 18; ENDOSTATIN;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DELETION MUTANT; DNA SEQUENCE; ENCEPHALOCELE; EXON; EYE EXAMINATION; FEMALE; HOMOZYGOSITY; HUMAN; KNOBLOCH SYNDROME; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK ASSESSMENT; SCHOOL CHILD; SIBLING; SYNDROME; VITREORETINAL DEGENERATION;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE XVIII; DNA MUTATIONAL ANALYSIS; ENCEPHALOCELE; EYE ABNORMALITIES; FAMILY; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; RETINAL DETACHMENT;

SALVADORIA;

EID: 78049295286     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33621     Document Type: Article

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