Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene

European Journal of Endocrinology

Volumn 164, Issue 2, 2011, Pages 179-187

  Brachet, Cécile ^a   Birk, Julia ^b   Christophe, Catherine ^a   Tenoutasse, Sylvie ^a   Velkeniers, Brigitte ^c   Heinrichs, Claudine ^a   Rutishauser, Jonas ^b  

^a HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^b UNIVERSITY OF BASEL   (Switzerland)

^c UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROPHYSIN; NEUROPHYSIN II; UNCLASSIFIED DRUG; VASOPRESSIN;

ADULT; AGED; ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT FAMILIAL NEUROHYPOPHYSEAL DIABETES INSIPIDUS; BODY HEIGHT; BODY WEIGHT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GROWTH RETARDATION; HETEROLOGOUS EXPRESSION; HORMONE SUBSTITUTION; HUMAN; IMMUNOFLUORESCENCE; MALE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; WATER DEPRIVATION; APPETITE; AUTOSOMAL DOMINANT DISORDER; CATCH UP GROWTH; CHILD HEALTH; FAILURE TO THRIVE; FAMILY HISTORY; GENETIC SCREENING; HYPOTHALAMUS HYPOPHYSIS SYSTEM; MOLECULAR DYNAMICS; NEUROGENIC DIABETES INSIPIDUS; NEWBORN; PARENT COUNSELING; PEDIGREE ANALYSIS; POLYDIPSIA; POLYURIA; PSYCHOSOMATIC DISORDER;

CHILD; CHILD, PRESCHOOL; DIABETES INSIPIDUS, NEUROGENIC; FEMALE; GROWTH DISORDERS; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROPHYSINS; PEDIGREE; POLYURIA; VASOPRESSINS; WATER DEPRIVATION;

EID: 78751530282     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-10-0823     Document Type: Article

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