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  1. Achondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1152
    ... Search term GeneReviews Advanced Search Help < Prev Next > Achondroplasia Synonym: FGFR3 -Related Achondroplasia Janet M Legare , MD. ... to be decreased by about ten years. Homozygous achondroplasia , caused by biallelic pathogenic variants at nucleotide 1138 ...
  2. Achondroplasia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/achondroplasia
    ... disorder. Learn more about the gene associated with Achondroplasia FGFR3 Inheritance Achondroplasia is inherited in an autosomal ...
  3. Dwarfism 
    https://medlineplus.gov/dwarfism.html
    ... an adult. Many conditions can cause dwarfism but Achondroplasia causes about 70 percent. ... More than 300 different conditions can cause dwarfism. Achondroplasia is the most common type of dwarfism. Achondroplasia ...
  4. Achondroplasia 
    https://medlineplus.gov/ency/article/001577.htm
    Achondroplasia is a disorder of bone growth that causes the most common type of dwarfism. ... Achondroplasia is one of a group of conditions called chondrodystrophies or osteochondrodysplasias. These rare genetic disorders cause ...
  5. FGFR3 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/fgfr3
    ... the epidermis. Health Conditions Related to Genetic Changes Achondroplasia Two variants (also called mutations) in the FGFR3 ... cause more than 99 percent of cases of achondroplasia, which is the most common form of short- ...
  6. Hypochondroplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1477
    ... when molecular testing is requested for hypochondroplasia. Hypochondroplasia-achondroplasia complex. Heterozygosity for FGFR3 variants p.Asn540Lys and ...
  7. MedlinePlus Drug Information: Vosoritide 
    https://medlineplus.gov/druginfo/meds/a622012.html
    ... linear growth (height) in certain children who have achondroplasia (ACH; achondroplastic dwarfism; a genetic condition of bone ...
  8. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Achondroplasia</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  9. Criteria for Determining Disability in Infants and Children: Short Stature: Summary - AHRQ Evidence Report Summaries - .... 
    https://www.ncbi.nlm.nih.gov/books/NBK11958
    ... in achievement of motor skills in children with achondroplasia and osteogenesis imperfecta, and decreased ambulation, range of ... studies examined academic achievement among 84 children with achondroplasia or osteogenesis imperfecta. In two studies, achondroplasia patients ...
  10. Thanatophoric Dysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1366
    ... 6.5 SD below the mean on the achondroplasia growth charts; OFC at +1 SD in infancy ... 1) who presented with features labeled as atypical achondroplasia. Genotype-Phenotype Correlations TD type 1. FGFR3 pathogenic ...
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