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

Lignende værker

• Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
  af: Klopocki, Eva, et al.
  Udgivet: (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
  af: Tayebi, Naeimeh, et al.
  Udgivet: (2014)
• A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia
  af: Türkmen, Seval, et al.
  Udgivet: (2017)
• Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
  af: Bae, Jihong, et al.
  Udgivet: (2018)
• Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2
  af: Dathe, Katarina, et al.
  Udgivet: (2009)