Further delineation of cerebro-osteo-nephrosis syndrome

American Journal of Medical Genetics

Volumn 72, Issue 4, 1997, Pages 383-385

  Udler, Yevgenia ^a   Halpern, Gabrielle J ^a   Sher, Carron ^a   Davidovitz, Miriam ^a   Shohat, Mordechai ^a,b  

^a RABIN MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

Minor anomalies; Proteinuria; Short stature

Indexed keywords

ARTICLE; CEREBRO OSTEO NEPHROSIS SYNDROME; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE 46,XX; KIDNEY FAILURE; NEWBORN; OPHTHALMOSCOPY; PLEIOTROPY; PRIORITY JOURNAL; PROTEINURIA; SHORT STATURE; SKELETON MALFORMATION;

ABNORMALITIES, MULTIPLE; BONE AND BONES; BRAIN; FEMALE; HUMANS; KARYOTYPING; NEPHROSIS; SYNDROME;

EID: 0030780868     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971112)72:4<383::AID-AJMG1>3.0.CO;2-S     Document Type: Article

References (3)

1. Opitz JM, Lowry RB, Holmes TM, Morgan K (1985): Hutterite cerebroosteo-nephrodysplasia: Autosomal recessive trait in a Lehrerleut Hutterite family from Montana. Am J Med Genet 22:521-529.
2. Sano H, Miyanoshita AK, Watanabe N, Koga Y, Miyazawa Y, Yamaguchi Y, Fukushima Y, Itami N (1995): Microcephaly and early-onset nephrotic syndrome confusion in Galloway-Mowat syndrome. Pediatr Nephrol 9:711-714.
3. Watters GV, Zlotkin SH, Kaplan BS, Humphreys P, Drummond KN (1981): Friedrech's ataxia with nephrotic syndrome and convulsive disorders: Clinical and neurophysiological studies with renal and nerve biopsies and an autopsy. Neurol 8:55-60.