Mutations in PCYT1A, Encoding a Key Regulator of Phosphatidylcholine Metabolism, Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Παρόμοια τεκμήρια

• Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
  ανά: Yamamoto, Guilherme L., κ.ά.
  Έκδοση: (2014)
• An Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia Secondary to Lamin B Receptor (LBR) Gene Mutations: Further Definition of the Phenotypic Heterogeneity of LBR-Bone Dysplasias
  ανά: Sobreira, Nara, κ.ά.
  Έκδοση: (2014)
• Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant
  ανά: Faye, Eden, κ.ά.
  Έκδοση: (2019)
• Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type
  ανά: Jurgens, Julie, κ.ά.
  Έκδοση: (2015)
• Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
  ανά: Jurgens, Julie, κ.ά.
  Έκδοση: (2015)