SAT-093 Two Cases of Autosomal Dominant Familial Central Diabetes Insipidus: A Novel Variant in Neurophysin II Region of AVP Gene

Míreanna Comhchosúla

• SAT-069 Advantages of Next Generation Sequencing (NGS) in Hypophosphatemic Disorders Diagnosis. First Case of SLC9A3R1 Gene Pathogenic Variant Detected in a Pediatric Patient
  le: Ramirez, Biochemist, Pablo, et al.
  Foilsithe: (2020)
• A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.
  le: Bahnsen, U, et al.
  Foilsithe: (1992)
• Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP-NPII gene
  le: Yang, Hongbo, et al.
  Foilsithe: (2019)
• Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.
  le: Rittig, S., et al.
  Foilsithe: (1996)
• SAT-056 Autosomal Dominant Hypophosphatemic Rickets in Premature Twins Resolved with Iron Supplementation
  le: Alarcon, Guido, et al.
  Foilsithe: (2020)