M. Vujic

Publication List Details

Period

2002 - 2002

Number

4

Co-Authors

Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus.

Vujic, M, Hallstensson, K, Wahlström, J, Lundberg, A, Langmaack, C, Martinson, T

Larsen syndrome (LS) is a skeletal dysplasia (osteochondrodysplasia) in which multiple dislocations of the large joints are the major feature. Nosology in this group of diseases, which constitutes 8%...

Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p

Wahlstrom, J., Uller, A., Johannesson, T., Holmqvist, D., Darnfors, C., Vujic, M., ...

A girl fulfilling four/five of six inclusion criteria and eight/nine of 11 supportive criteria for atypical Rett syndrome had a cytogenetic deletion of chromosome 3p, del(3)(pter→3p25.1~25.2). The...

Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden

Oskarsdottir, S, Vujic, M, Fasth, A

Backgound: Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11.2. These syndromes are usually...