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
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