Mosaicism in pseudoachondroplasia

American Journal of Medical Genetics

Volumn 70, Issue 3, 1997, Pages 287-291

  Ferguson, Heather L ^a,b   Deere, Michelle ^a,b   Evans, Randall ^a   Rotta, Julie ^c   Hall, Judith G ^d   Hecht, Jacqueline T ^a,b  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF TEXAS   (United States)

^c NEW YORK MEDICAL COLLEGE   (United States)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Cartilage oligomeric matrix protein; COMP; Germline mosaicism; Mutation; Pseudoachondroplasia; Skeletal dysplasia; Somatic mosaicism; Spondylo epi metaphyseal dysplasia

Indexed keywords

MATRIX PROTEIN;

ACHONDROPLASIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 19P; GENETIC COUNSELING; GENETIC LINKAGE; HUMAN; HUMAN CELL; HUMAN TISSUE; MOSAICISM; PEDIGREE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ACHONDROPLASIA; AMINO ACID SEQUENCE; CHILD, PRESCHOOL; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GLYCOPROTEINS; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; PEDIGREE;

EID: 0030951850     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970613)70:3<287::AID-AJMG14>3.0.CO;2-H     Document Type: Article

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