Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders

Documenti analoghi

• An Unstable ATG2A Variant Causes a Neurodegenerative Disorder via Impaired Autophagy and Proteotoxic Stress in Brain Atrophy
  di: S. Rehan Ahmad, et al.
  Pubblicazione: (2025)
• Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia
  di: Susann Karlberg, et al.
  Pubblicazione: (2024)
• Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses
  di: Yutaka Furuta, et al.
  Pubblicazione: (2025)
• Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype
  di: Fakhriya Al‐Azri, et al.
  Pubblicazione: (2026)
• Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder
  di: Periyasamy Radhakrishnan, et al.
  Pubblicazione: (2024)