Familial Hypocalciuric Hypercalcaemia Type 3 (FHH3) Identified in a Family in Northern Ireland Leading to Identification of a Causative Mutation in the Adaptor Protein 2 Sigma 1 (AP2S1) Gene

Eitemau Tebyg

• Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
  gan: Hannan, F, et al.
  Cyhoeddwyd: (2015)
• Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
  gan: Nesbit, M, et al.
  Cyhoeddwyd: (2013)
• Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
  gan: Nesbit, M, et al.
  Cyhoeddwyd: (2013)
• Neonatal hypocalcemic seizures in offspring of a mother with familial hypocalciuric hypercalcemia type 1 (FHH1)
  gan: Dharmaraj, P, et al.
  Cyhoeddwyd: (2020)
• Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.
  gan: Nesbit, M, et al.
  Cyhoeddwyd: (2010)