Pregled bibliografske jedinice broj: 977345
Marshall syndrome Autism, profunf intelectual disability, hearing loss aND AMBLIIOPIA - CASE REPORT
Marshall syndrome Autism, profunf intelectual disability, hearing loss aND AMBLIIOPIA - CASE REPORT // International Sociiety for Applied Biiological Science, Program and Abstracts
Zagreb: Grafički zavod Hrvatske, 2017. str. 303-303 (poster, međunarodna recenzija, sažetak, znanstveni)
CROSBI ID: 977345 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Marshall syndrome Autism, profunf intelectual disability, hearing loss aND AMBLIIOPIA - CASE REPORT
Autori
Pušeljić, Silvija ; Tomac, Višnja ; Milas, Diana ; Milas, Vesna
Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni
Izvornik
International Sociiety for Applied Biiological Science, Program and Abstracts
/ - Zagreb : Grafički zavod Hrvatske, 2017, 303-303
ISBN
9789535769521
Skup
10th ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic Lectures in Individualized Mediciine
Mjesto i datum
Dubrovnik, Hrvatska, 19.06.2017. - 24.06.2017
Vrsta sudjelovanja
Poster
Vrsta recenzije
Međunarodna recenzija
Ključne riječi
Marshall syndrome, hearing loss, ambliopiia, intelectual disability, autism
Sažetak
Marshall syndrome is rare autosomal dominant syndrome caused by autosomal dominant genetic disorder - mutations in the collagen XI, alpha- 1 polypeptide (COL11A1) gene located on the chromosome 1p21.1. Eight years girl was reported, he has flexible joints, hypotonia, dysmorphic face, high myopic refraction and ambliopia, agresion and autoagresion, intelectual disabillity.Mutation of COL11A1 gene have been associated with cataracts, hearing loss and autism.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Ustanove:
Klinički bolnički centar Osijek,
Medicinski fakultet, Osijek,
Fakultet za dentalnu medicinu i zdravstvo, Osijek
