A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.

Míreanna comhchosúla

• Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.
  de réir: Loh, N, et al.
  Foilsithe / Cruthaithe: (2013)
• Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.
  de réir: Nellie Y Loh, et al.
  Foilsithe / Cruthaithe: (2013-01-01)
• Refractory Seizure with Autosomal Dominant Hypocalcemia with Hypercalciuria with a Mutation Detected Using Whole Exome Sequencing
  de réir: Seong Bae Ahn, et al.
  Foilsithe / Cruthaithe: (2021-01-01)
• Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria.
  de réir: Scheinman, S, et al.
  Foilsithe / Cruthaithe: (2000)
• A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1
  de réir: Benjamin Kwan, et al.
  Foilsithe / Cruthaithe: (2018-09-01)