Nephrogenic diabetes insipidus in a patient with L1 syndrome: A new report of a contiguous gene deletion syndrome including L1CAM and AVPR2

American Journal of Medical Genetics, Part A

Volumn 146, Issue 14, 2008, Pages 1853-1858

  Knops, Noël B B ^a   Bos, Krista K ^b   Kerstjens, Mieke ^b   Van Dael, Karin ^c   Vos, Yvonne J ^b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

ARHGAP4; AVPR2; Contiguous gene deletion; Hydrocephalus; L1 syndrome; L1CAM; Nephrogenic diabetes insipidus; X chromosome

Indexed keywords

AMILORIDE; DESMOPRESSIN; GROWTH HORMONE; HYDROCHLOROTHIAZIDE; SOMATOMEDIN;

ARHGAP4 GENE; ARTICLE; AVPR2 GENE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CHROMOSOME XQ; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIAGNOSTIC IMAGING; DRUG TREATMENT FAILURE; FOLLOW UP; GENE; GENE DELETION; GENE LOCUS; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; HUMAN; HYDROCEPHALUS; HYPOTHYROIDISM; IMAGE ANALYSIS; INFANT; INTRON; L1 SYNDROME; L1CAM GENE; MALE; NEPHROGENIC DIABETES INSIPIDUS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; POLYURIA; PRIORITY JOURNAL; SYMPTOM; X CHROMOSOME LINKED DISORDER;

ADULT; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; DIABETES INSIPIDUS, NEPHROGENIC; DNA PRIMERS; FEMALE; GENE DELETION; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; NEURAL CELL ADHESION MOLECULE L1; PREGNANCY; RECEPTORS, VASOPRESSIN; SYNDROME;

EID: 47349111106     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32386     Document Type: Article

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