Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus

Scandinavian Journal of Urology and Nephrology

Volumn 44, Issue 5, 2010, Pages 324-330

  Færch, Mia ^a,b   Corydon, Thomas J ^a   Rittig, Søren ^b   Christensen, Jane H ^a,b   Hertz, Jens Michael ^b   Jendle, Johan ^c  

^a AARHUS UNIVERSITY   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

^c ÖREBRO UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Arginine vasopressin receptor 2; Congenital nephrogenic diabetes insipidus; Phenotype; Skewed X chromosome inactivation

Indexed keywords

DESMOPRESSIN; HYDROCHLOROTHIAZIDE; INDOMETACIN;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHROMOSOME INACTIVATION; DIAGNOSTIC ERROR; DNA DETERMINATION; FEMALE; GENETIC VARIABILITY; HEREDITY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYDIPSIA; PRIORITY JOURNAL; RENAL DIABETES; URINE OSMOLALITY; URINE VOLUME; X CHROMOSOME;

ADULT; AQUAPORIN 2; DIABETES INSIPIDUS; FEMALE; GENE SILENCING; GENES, X-LINKED; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PEDIGREE; RESTRICTION MAPPING;

EID: 77958453213     PISSN: 00365599     EISSN: 16512065     Source Type: Journal    
DOI: 10.3109/00365599.2010.482946     Document Type: Article

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