Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD

Những quyển sách tương tự

• Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)
  Bằng: Das, Liza, et al.
  Được phát hành: (2020)
• Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
  Bằng: Guo, Long, et al.
  Được phát hành: (2017)
• Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
  Bằng: Notarangelo, Luigi D
  Được phát hành: (2017)
• Unique Growing Rod Treatment with Prior Foundation Surgery for Spondylo-Epi-Metaphyseal Dysplasia with Severe Kyphoscoliosis: A Case Report
  Bằng: Chiba, Takafumi, et al.
  Được phát hành: (2019)
• Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
  Bằng: Hellemans, Jan, et al.
  Được phát hành: (2009)