title: Identification of a novel SHOX mutation in a Chinese family with isolated Madelung deformity.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, People's Republic of China. wulingqian@sklmg.edu.cn.
authors.forename: Libin
authors.initials: L
authors.lastname: Mei
authors.forename: Yanru
authors.initials: Y
authors.lastname: Huang
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Haoxian
authors.initials: H
authors.lastname: Li
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006130:Growth Disorders / Q000235:genetics* / Q000473:pathology; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D017422:Sequence Analysis, DNA; D000074122:Short Stature Homeobox Protein
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein