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Titolo:
THE MYHRE SYNDROME - REPORT OF 2 CASES
Autore:
GARCIACRUZ D; FIGUERA LE; FERIAVELAZCO A; SANCHEZCORONA J; GARCIACRUZ MO; RAMIREZDUENAS RM; HERNANDEZCORDOVA A; RUIZ MX; BITARALATORRE WE; RAMIREZDUENAS ML; CANTU JM;
Indirizzi:
IMSS,CIBO,DIV GENET,AP 1-3838 GUADALAJARA JALISCO MEXICO IMSS,CMNO,DIV GENET GUADALAJARA JALISCO MEXICO IMSS,CMNO,CIBO,DIV PATOL EXPTL GUADALAJARA JALISCO MEXICO IMSS,CMNO,HGR 46 GUADALAJARA JALISCO MEXICO IMSS,CMNO,HOSP ESPECIALIDADES GUADALAJARA JALISCO MEXICO
Titolo Testata:
Clinical genetics
fascicolo: 4, volume: 44, anno: 1993,
pagine: 203 - 207
SICI:
0009-9163(1993)44:4<203:TMS-RO>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
OLDER;
Keywords:
BLEPHAROPHIMOSIS; DEAFNESS; INTRAUTERINE GROWTH RETARDATION; MENTAL RETARDATION; MUSCULAR HYPERTROPHY; MYHRE SYNDROME; SHORT STATURE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
6
Recensione:
Indirizzi per estratti:
Citazione:
D. Garciacruz et al., "THE MYHRE SYNDROME - REPORT OF 2 CASES", Clinical genetics, 44(4), 1993, pp. 203-207

Abstract

Two unrelated patients, aged 19 and 6 years, were studied and diagnosed as having Myhre syndrome (MS). This review, together with three previous cases, permits further delineation of MS. The main features are:short stature, mental retardation, blepharophimosis, muscular hypertrophy, decreased joint mobility, thick calvarium, broad ribs, hypoplastic iliac wings and short tubular bones. Advanced paternal age at the propositi's birth suggests an autosomal dominant mutation as the cause of MS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/09/20 alle ore 13:40:27