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Marshall syndrome Autism, profunf intelectual disability, hearing loss aND AMBLIIOPIA - CASE REPORT (CROSBI ID 671273)

Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija

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, 2017. str. 303-303

Podaci o odgovornosti

Pušeljić, Silvija ; Tomac, Višnja ; Milas, Diana ; Milas, Vesna

engleski

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

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.

Marshall syndrome, hearing loss, ambliopiia, intelectual disability, autism

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o prilogu

303-303.

2017.

objavljeno

Podaci o matičnoj publikaciji

International Sociiety for Applied Biiological Science, Program and Abstracts

Zagreb: Grafički zavod Hrvatske

9789535769521

Podaci o skupu

10th ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic Lectures in Individualized Mediciine

poster

19.06.2017-24.06.2017

Dubrovnik, Hrvatska

Povezanost rada

Kliničke medicinske znanosti