Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification and Congenital Cataracts

Παρόμοια τεκμήρια

• A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts
  ανά: Mochida, Ganeshwaran H., κ.ά.
  Έκδοση: (2010)
• A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance
  ανά: Ali, Bassam R, κ.ά.
  Έκδοση: (2012)
• A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset
  ανά: De Rose, Domenico Umberto, κ.ά.
  Έκδοση: (2021)
• Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.
  ανά: Digilio, M C, κ.ά.
  Έκδοση: (1997)
• Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON
  ανά: Abdelrahman, Hanadi A., κ.ά.
  Έκδοση: (2019)