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Titolo:
Nephrotic syndrome, microcephaly, and developmental delay: Three separate syndromes
Autore:
Meyers, KEC; Kaplan, P; Kaplan, BS;
Indirizzi:
Childrens Hosp Philadelphia, Div Nephrol, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia Philadelphia PA USA 19104 lphia, PA 19104 USA Univ Penn, Philadelphia, PA 19104 USA Univ Penn Philadelphia PA USA 19104Univ Penn, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Div Genet, Philadelphia, PA 19104 Childrens Hosp Philadelphia Philadelphia PA USA 19104 ladelphia, PA 19104 Childrens Hosp Philadelphia, Dept Pediat, Div Metab, Philadelphia, PA 19104 Childrens Hosp Philadelphia Philadelphia PA USA 19104 ladelphia, PA 19104
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 3, volume: 82, anno: 1999,
pagine: 257 - 260
SICI:
0148-7299(19990129)82:3<257:NSMADD>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
GALLOWAY-MOWAT SYNDROME; INFANTILE SPASMS; MIGRATION; DISORDER;
Keywords:
nephrotic syndrome; microcephaly; developmental delay; Galloway-Mowat syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Kaplan, BS Childrens,Hosp Philadelphia, Div Nephrol, 34th & Civ Ctr Blvd, Philadelphia Childrens Hosp Philadelphia 34th & Civ Ctr Blvd Philadelphia PA USA 19104
Citazione:
K.E.C. Meyers et al., "Nephrotic syndrome, microcephaly, and developmental delay: Three separate syndromes", AM J MED G, 82(3), 1999, pp. 257-260

Abstract

We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephroticsyndrome with microcephaly and developmental delay may be coincidental, ormay reflect one of at least three syndromes: Galloway-Mowat, a second syndrome of microcephaly, nephrotic syndrome and developmental delay (MNSDD), and a third syndrome of microcephaly, developmental delay, and spondylorhizomelic short stature. (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 02:10:30