A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23

Ítems similars

• Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1
  per: Guergueltcheva, Velina, et al.
  Publicat: (2012)
• A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy – Russe (HMSNR)
  per: Hantke, Janina, et al.
  Publicat: (2009)
• Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome
  per: Chamova, Teodora, et al.
  Publicat: (2015)
• Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
  per: Gabreels-Festen, A., et al.
  Publicat: (1999)
• DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2
  per: Basit, Sulman, et al.
  Publicat: (2010)