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  3. Research By Disease

Disease: Brachydactyly type A3

  • A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum
  • Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case
  • Brachydactyly
  • Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family
  • Brachydactyly Type A3 Is More Commonly Seen in Children With Short Stature But Does Not Affect Their Height Improvement by Growth Hormone Therapy
  • Brachydactyly type E in an Italian family with 6p25 trisomy
  • Does brachydactyly have a protective effect on the erosive changes in rheumatoid arthritis?
  • Early childhood presentation of Czech dysplasia
  • Evaluation of qualitative methods for phenotyping brachymesophalangia-V from radiographs of children
  • Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal
  • Identification of a Novel <em>IQCE</em> Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7
  • Madelung-like deformity in pseudohypoparathyroidism type 1b
  • Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation
  • Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy
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