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Biomedical Papers, ISSN 1213-8118, 03/2018, Volume 162, Issue 1, pp. 65 - 70
Background. Leri-Weill syndrome (LWS) ranks among conditions with short stature homeobox gene (SHOX) haploinsufficiency. Data on possible association of SHOX... 
SHOX gene | Pseudoautosomal region (PAR1) | Leri-Weill syndrome (LWS) | Acute lymphoblastic leukemia (ALL) | Childhood | MEDICINE, RESEARCH & EXPERIMENTAL | childhood | DYSCHONDROSTEOSIS | acute lymphoblastic leukemia (ALL) | HOMEOBOX | CANCER | pseudoautosomal region (PAR1) | IDIOPATHIC SHORT STATURE | GROWTH FAILURE | COHORT | MUTATIONS
Journal Article
Journal Article
Turkish Journal of Medical Sciences, ISSN 1300-0144, 2018, Volume 48, Issue 2, pp. 386 - 390
Background/aim: The aim of this study was to investigate the prevalence of the microdeletions and mutations of the SHOX gene in children with idiopathic short... 
Microdeletion | SHOX gene | Mutation analyses | Fluorescence in situ hybridization | Idiopathic short stature | DYSCHONDROSTEOSIS | microdeletion | TURNER-SYNDROME | HOMEOBOX | CHILDREN | HAPLOINSUFFICIENCY | fluorescence in situ hybridization | MEDICINE, GENERAL & INTERNAL | mutation analyses | GROWTH FAILURE | DELETIONS
Journal Article
Nature Genetics, ISSN 1061-4036, 05/1998, Volume 19, Issue 1, pp. 70 - 73
Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly... 
TRANSLOCATION | WOMAN | GENETICS & HEREDITY | Amino Acid Sequence | Humans | Molecular Sequence Data | In Situ Hybridization, Fluorescence | Male | Homeodomain Proteins - genetics | Lod Score | Short Stature Homeobox Protein | Pedigree | Base Sequence | DNA | Female | Mutation | Genetic Linkage
Journal Article