Variable phenotypic expression of a MECP2 mutation in a family

Lignende værker

• Detection of Rarely Identified Multiple Mutations in MECP2 Gene Do Not Contribute to Enhanced Severity in Rett Syndrome
  af: Chapleau, Christopher A., et al.
  Udgivet: (2013)
• From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2
  af: Sheikh, Taimoor I., et al.
  Udgivet: (2016)
• The phenotype associated with a large deletion on MECP2
  af: Bebbington, Ami, et al.
  Udgivet: (2012)
• Variability in dentofacial phenotypes in four families with WNT10A mutations
  af: Vink, Christian P, et al.
  Udgivet: (2014)
• Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family
  af: Goolam, Saadiah, et al.
  Udgivet: (2018)