Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia

American Journal of Medical Genetics

Volumn 116, Issue 1, 2003, Pages 61-65

  Ross, Judith L ^a,b   Bellus, Gary ^c   Scott Jr , Charles I ^a,b   Abboudi, Jack ^a   Grigelioniene, Giedre ^d   Zinn, Andrew R ^e  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF COLORADO   (United States)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Double heterozygosity; FGFR3; SHOX

Indexed keywords

ACHONDROPLASIA; ARTICLE; CASE REPORT; DYSCHONDROSTEOSIS; FEMALE; FGF3R GENE; GENE; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HYPOCHONDROPLASIA; MALE; PEDIGREE; PRIORITY JOURNAL; SHORT STATURE; SHOX GENE;

EID: 12244312786     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10807     Document Type: Article

References (22)

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