New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 10, 2012, Pages 2456-2462

  Song, Sang Heon ^a   Balce, Gracia Cielo Estrera ^a   Agashe, Mandar Vikas ^a   Lee, Hanna ^a   Hong, Suk Joo ^a   Park, Young Eun ^a   Kim, Sang Gyun ^a   Song, Hae Ryong ^a  

^a Korea University Ansan Hospital   (South Korea)

Author keywords

Achondroplasia; Heterogeneity; Hypochondroplasia; Phenotypic overlap

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DYSCHONDROSTEOSIS; GENE; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOCHONDROPLASIA; INCIDENCE; LIMB MALFORMATION; MAJOR CLINICAL STUDY; MESOMELIA; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RADIOGRAPHY; SHORT STATURE; SHORT STATURE HOMEOBOX GENE;

ACHONDROPLASIA; BONE AND BONES; DWARFISM; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; LIMB DEFORMITIES, CONGENITAL; LORDOSIS; MUTATION; PHENOTYPE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3;

EID: 84866516374     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35564     Document Type: Article

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