A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3

Ítems similars

• A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1
  per: Higuchi, Shinji, et al.
  Publicat: (2016)
• A Japanese case of familial hypercholesterolemia with a novel mutation in the LDLR gene
  per: Nagahara, Keiko, et al.
  Publicat: (2019)
• A Japanese boy with fructose-1,6-bisphosphatase deficiency who had a novel FBP1 mutation (p.Phe90Val)
  per: Nagahara, Keiko, et al.
  Publicat: (2017)
• A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2
  per: Fukuma, Mami, et al.
  Publicat: (2018)
• Criteria of radiological diagnosis for neonates with hypochondroplasia
  per: Nagasaki, Keisuke, et al.
  Publicat: (2015)