SAT-506 Identification of a Mutation in AP2S1 Causing Familial Hypocalciuric Hypercalcemia Type 3 in a Patient with Unknown Family History of the Disease

Lignende værker

• SAT-361 Familial Hypocalciuric Hypercalcemia Type 3: AP2S1 Mutation
  af: Kerut, Sarah Elizabeth, et al.
  Udgivet: (2020)
• Atypical Presentation of Familial Hypocalciuric Hypercalcemia: Case Report
  af: Ali, Dalal S, et al.
  Udgivet: (2021)
• Clinical Presentation and Management Approach in a Case of Familial Hypocalciuric Hypercalcemia Type 3 Due to APS21 Gene Mutation
  af: Elsheikh, Sahar A, et al.
  Udgivet: (2021)
• SAT-351 A Novel Mutation in the Calcium-Sensing Receptor Gene Presenting in a Kindred as Autosomal Dominant Familial Hypocalciuric Hypercalcemia
  af: Bushman, Jordan, et al.
  Udgivet: (2020)
• SAT-404 Neonatal Hypocalcemic Seizures in Offspring of a Mother with Familial Hypocalciuric Hypercalcemia Type 1 (FHH1)
  af: Hannan, Fadil M, et al.
  Udgivet: (2020)