Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]

American Journal of Medical Genetics

Volumn 77, Issue 5, 1998, Pages 356-359

  Ikegawa, Shiro ^a   Ohashi, Hirofumi ^b   Hosoda, Fumie ^c   Fukushima, Yoshimitsu ^d   Ohki, Misao ^c   Nakamura, Yusuke ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^c NATIONAL CANCER CENTER RESEARCH INSTITUTE   (Japan)

^d SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

del(11) (q21q22.2); FISH; Genetic heterogeneity; Pseudoachondroplasia

Indexed keywords

DNA MARKER; MATRIX PROTEIN;

ADOLESCENT; ARTICLE; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME 11; EPIPHYSIS DISEASE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; INTERSTITIAL CHROMOSOME DELETION; MALE; METAPHYSIS; PRIORITY JOURNAL; PSEUDOACHONDROPLASIA; SHORT STATURE;

ACHONDROPLASIA; ADOLESCENT; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE;

EID: 0032486092     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980605)77:5<356::AID-AJMG3>3.0.CO;2-L     Document Type: Article

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