Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy–Walker malformation and single ventricle heart

Ähnliche Einträge

• Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype
  von: Natalie Burrill, et al.
  Veröffentlicht: (2024)
• Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases
  von: Liling Lin, et al.
  Veröffentlicht: (2024)
• Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant
  von: Carly M. Smith, et al.
  Veröffentlicht: (2024)
• Association of right aortic arch and agenesis of ductus arteriosus in prenatal tetralogy of Fallot spectrum and its clinical implications
  von: Adeline Walter, et al.
  Veröffentlicht: (2024)
• The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis
  von: K. Reilly, et al.
  Veröffentlicht: (2024)