Document Detail


Fragile X syndrome and nephrogenic diabetes insipidus.
MedLine Citation:
PMID:  3177449     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
G K Suthers; G Turner; J C Mulley
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  30     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:    1988 May-Jun
Date Detail:
Created Date:  1988-11-08     Completed Date:  1988-11-08     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  231-6     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, New South Wales.
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MeSH Terms
Descriptor/Qualifier:
Diabetes Insipidus / complications*,  genetics
Female
Fragile X Syndrome / complications*,  genetics
Genetic Markers
Humans
Linkage (Genetics)
Male
Pedigree
Sex Chromosome Aberrations / complications*
X Chromosome
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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