Pregled bibliografske jedinice broj: 728271
Twins and their mildly affected mother with Weaver syndrome : case report
Twins and their mildly affected mother with Weaver syndrome : case report // Clinical genetics, 44 (1993), 6; 338-340 doi:10.1111/j.1399-0004.1993.tb03912.x (međunarodna recenzija, članak, znanstveni)
CROSBI ID: 728271 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Twins and their mildly affected mother with Weaver syndrome : case report
Autori
Dumić, Miroslav ; Vuković, Jurica ; Cvitković, Miran ; Medica, Igor
Izvornik
Clinical genetics (0009-9163) 44
(1993), 6;
338-340
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni
Ključne riječi
autosomal dominant inheritance; hyperhydrosis; overgrowth; Weaver syndrome
Sažetak
A pair of twins, a brother and sister, with the complete form of Weaver syndrome (overgrowth, macrocephaly, facial, skeletal, nail and feet anomalies) and their mildly affected mother are reported, suggesting autosomal dominant inheritance. They all have plantar and palmar hyperhydrosis and twins also have nail dysplasia, symptoms which have not yet been described in this syndrome.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Ustanove:
Medicinski fakultet, Zagreb
Citiraj ovu publikaciju:
Časopis indeksira:
- Current Contents Connect (CCC)
- Web of Science Core Collection (WoSCC)
- SCI-EXP, SSCI i/ili A&HCI
- Scopus
- MEDLINE