Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia

Benzer Materyaller

• Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
  Yazar:: Klopocki, Eva, ve diğerleri
  Baskı/Yayın Bilgisi: (2010)
• Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
  Yazar:: Tayebi, Naeimeh, ve diğerleri
  Baskı/Yayın Bilgisi: (2014)
• A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia
  Yazar:: Türkmen, Seval, ve diğerleri
  Baskı/Yayın Bilgisi: (2017)
• Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
  Yazar:: Bae, Jihong, ve diğerleri
  Baskı/Yayın Bilgisi: (2018)
• Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2
  Yazar:: Dathe, Katarina, ve diğerleri
  Baskı/Yayın Bilgisi: (2009)