Neuronal ceroid lipofuscinosis in a Schapendoes dog is caused by a missense variant in CLN6

Documenti analoghi

• Intragenic MFSD8 duplication and histopathological findings in a rabbit with neuronal ceroid lipofuscinosis
  di: Matthias Christen, et al.
  Pubblicazione: (2024)
• Intragenic duplication disrupting the reading frame of MFSD8 in Small Swiss Hounds with neuronal ceroid lipofuscinosis
  di: Stefan J. Rietmann, et al.
  Pubblicazione: (2024)
• Autosomal dominant primary hyperparathyroidism in the Keeshond dog breed is strongly associated with a missense variant in sirtuin‐6
  di: Claire M. Wade, et al.
  Pubblicazione: (2025)
• GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
  di: Stefan J. Rietmann, et al.
  Pubblicazione: (2026)
• A recessive deleterious missense variant in PEX7 causes a lethal form of chondrodysplasia in Bazadaise cattle
  di: Cécile Grohs, et al.
  Pubblicazione: (2025)