๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Case report: Fragile X syndrome and nephrogenic diabetes insipidus

โœ Scribed by Suthers, G. K. ;Turner, G. ;Mulley, J. C.


Publisher
John Wiley and Sons
Year
1988
Tongue
English
Weight
250 KB
Volume
30
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

โœฆ Synopsis


We describe a man with the fra(X) syndrome and nephrogenic diabetes insipidus. The disease loci for both conditions are in the region Xq27.3-q28. This is the first report of the fra(X) syndrome associated with another X-linked disorder. Analysis of DNA markers suggested that the association in this man was coincidental.


๐Ÿ“œ SIMILAR VOLUMES


Cerebral defects and nephrogenic diabete
โœ Coleman, Rosalind A. ;Van Hove, Johan L. K. ;Morris, C. Richard ;Rhoads, J. Marc ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 17 KB ๐Ÿ‘ 2 views

We report on 4 children from 2 unrelated families who appear to have the lethal ARC syndrome (arthrogryposis, renal tubular dysfunction, and cholestasis) together with the additional findings of nephrogenic diabetes insipidus and cerebral anomalies, including deafness. With increased survival time i

Case report of vasopressin-responsive di
โœ David Juan; Shu-Dean Hsu; James Hunter ๐Ÿ“‚ Article ๐Ÿ“… 1985 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 174 KB

A sixth case in the world literature is reported of a 59-year-old male with diabetes insipidus (DI) associated with chronic myelogenous leukemia (CML). The patient is unique in that his CML was diagnosed 10 years before he presented with vasopressin-responsive DI. Radiation to the central nervous sy