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

Lignende værker

• Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia
  af: Guo, Long, et al.
  Udgivet: (2017)
• Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
  af: Simsek-Kiper, Pelin Ozlem, et al.
  Udgivet: (2022)
• Spondylo-epi-metaphyseal dysplasia due to a homozygous missense mutation in the gene encoding Matrilin-3 (T120M)
  af: Das, Liza, et al.
  Udgivet: (2020)
• Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD
  af: Borochowitz, Z, et al.
  Udgivet: (2004)
• Unique Growing Rod Treatment with Prior Foundation Surgery for Spondylo-Epi-Metaphyseal Dysplasia with Severe Kyphoscoliosis: A Case Report
  af: Chiba, Takafumi, et al.
  Udgivet: (2019)