Τίτλος:
A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status—maintaining quality of life—are of crucial importance. © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd
Συγγραφείς:
Papadimitriou, D.T.
Kleanthous, K.
Manolakos, E.
Tiulpakov, A.
Nikolopoulos, T.
Delides, A.
Voros, G.
Dinopoulos, A.
Zoupanos, G.
Papadimitriou, A.
Mastorakos, G.
Urano, F.
Περιοδικό:
Clinical Case Reports
Εκδότης:
Wiley-Blackwell Publishing Ltd
Λέξεις-κλειδιά:
fludrocortisone; hemoglobin A1c; idebenone; insulin degludec, adult; amenorrhea; Article; autopsy; bladder catheterization; case report; child; clinical article; cranial nerve; depression; diabetes insipidus; diabetes mellitus; diuresis; echography; eye examination; female; gene; gene mutation; genetic analysis; human; hypoglycemia; insomnia; intraocular pressure; male; marriage; nonconsanguineous parent; optic nerve atrophy; polymerase chain reaction; polyuria; priority journal; Sanger sequencing; school child; sister; tympanometry; urine incontinence; visual acuity; WFS1 gene; young adult
