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Pregled bibliografske jedinice broj: 977345

Marshall syndrome Autism, profunf intelectual disability, hearing loss aND AMBLIIOPIA - CASE REPORT


Pušeljić, Silvija; Tomac, Višnja; Milas, Diana; Milas, Vesna
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 d.o.o., 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 d.o.o., 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, RHrvatska, 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

Profili:

Avatar Url Silvija Pušeljić (autor)

Avatar Url Vesna Milas (autor)


Citiraj ovu publikaciju:

Pušeljić, Silvija; Tomac, Višnja; Milas, Diana; Milas, Vesna
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 d.o.o., 2017. str. 303-303 (poster, međunarodna recenzija, sažetak, znanstveni)
Pušeljić, S., Tomac, V., Milas, D. & Milas, V. (2017) Marshall syndrome Autism, profunf intelectual disability, hearing loss aND AMBLIIOPIA - CASE REPORT. U: International Sociiety for Applied Biiological Science, Program and Abstracts.
@article{article, author = {Pu\v{s}elji\'{c}, Silvija and Tomac, Vi\v{s}nja and Milas, Diana and Milas, Vesna}, year = {2017}, pages = {303-303}, keywords = {Marshall syndrome, hearing loss, ambliopiia, intelectual disability, autism}, isbn = {9789535769521}, title = {Marshall syndrome Autism, profunf intelectual disability, hearing loss aND AMBLIIOPIA - CASE REPORT}, keyword = {Marshall syndrome, hearing loss, ambliopiia, intelectual disability, autism}, publisher = {Grafi\v{c}ki zavod Hrvatske d.o.o.}, publisherplace = {Dubrovnik, RHrvatska} }
@article{article, author = {Pu\v{s}elji\'{c}, Silvija and Tomac, Vi\v{s}nja and Milas, Diana and Milas, Vesna}, year = {2017}, pages = {303-303}, keywords = {Marshall syndrome, hearing loss, ambliopiia, intelectual disability, autism}, isbn = {9789535769521}, title = {Marshall syndrome Autism, profunf intelectual disability, hearing loss aND AMBLIIOPIA - CASE REPORT}, keyword = {Marshall syndrome, hearing loss, ambliopiia, intelectual disability, autism}, publisher = {Grafi\v{c}ki zavod Hrvatske d.o.o.}, publisherplace = {Dubrovnik, RHrvatska} }




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