A G‐protein Subunit‐α11 Loss‐of‐Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)

Eitemau Tebyg

• Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα(11) Mutation
  gan: Gorvin, Caroline M, et al.
  Cyhoeddwyd: (2017)
• Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
  gan: Dharmaraj, Poonam, et al.
  Cyhoeddwyd: (2020)
• SAT-404 Neonatal Hypocalcemic Seizures in Offspring of a Mother with Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
  gan: Hannan, Fadil M, et al.
  Cyhoeddwyd: (2020)
• Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
  gan: Nesbit, M. Andrew, et al.
  Cyhoeddwyd: (2012)
• MON-539 Mice Harboring a Germline Heterozygous AP2S1 Mutation, Arg15Leu, Are a Model for Familial Hypocalciuric Hypercalcemia Type 3 (FHH3)
  gan: Hannan, Fadil, et al.
  Cyhoeddwyd: (2019)