Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: Additional findings or a new syndrome (ARCC-NDI)?

American Journal of Medical Genetics

Volumn 72, Issue 3, 1997, Pages 335-338

  Coleman, Rosalind A ^a   Van Hove, Johan L K ^b   Morris, C Richard ^a   Rhoads, J Marc ^a   Summar, Marshall L ^c  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b DUKE UNIVERSITY MEDICAL CENTER   (United States)

^c VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Arthrogryposis; Autosomal recessive inheritance; Cholestasis; Corpus callosum; Deafness; Diabetes insipidus; Hypotonia; Renal Fanconi syndrome; Renal tubular acidosis

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHOLESTASIS; CLINICAL FEATURE; DISEASE CLASSIFICATION; HUMAN; INFANT; KIDNEY TUBULE ACIDOSIS; KIDNEY TUBULE DISORDER; LIVER CIRRHOSIS; MENTAL DEFICIENCY; NEPHROGENIC DIABETES INSIPIDUS; PRIORITY JOURNAL; SURVIVAL;

ABNORMALITIES, MULTIPLE; ARTHROGRYPOSIS; CHOLESTASIS; DIABETES INSIPIDUS, NEPHROGENIC; FANCONI SYNDROME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY TUBULES; MALE; MENTAL RETARDATION; SYNDROME;

EID: 0030880934     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971031)72:3<335::AID-AJMG16>3.0.CO;2-U     Document Type: Article

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