Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

Những quyển sách tương tự

• A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation
  Bằng: Haruka Kishi, et al.
  Được phát hành: (2020-12-01)
• A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family
  Bằng: Yutaka Hasegawa, et al.
  Được phát hành: (2024-11-01)
• Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
  Bằng: Li Wang, et al.
  Được phát hành: (2017-01-01)
• Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature
  Bằng: Anne D. D. Joseph, et al.
  Được phát hành: (2019-10-01)
• Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp
  Bằng: Luke Vroegindewey, et al.
  Được phát hành: (2024-12-01)