Affiliation: Innsbruck Medical University
- Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossMatthias Baumann
Department of Paediatrics IV Neonatology, Paediatric Neurology and Inherited Metabolic Disorders, Innsbruck Medical University, Austria
Am J Hum Genet 90:201-16. 2012..FKBP14 mutation analysis should be considered in all individuals with apparent kyphoscoliotic type of EDS and normal urinary pyridinoline excretion, in particular in conjunction with sensorineural hearing impairment...
- Uncommon manifestations of neuroborreliosis in childrenMatthias Baumann
Department of Pediatrics, Division of Pediatric Neurology and Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, A 6020 Innsbruck, Austria
Eur J Paediatr Neurol 14:274-7. 2010..Thus, diagnostic work up in children with unusual neurological symptoms should include cerebrospinal fluid studies with determination of the white blood cell count and calculation of the antibody index against B. burgdorferi...
- A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variantsMatthias Baumann
Department of Paediatrics I, Medical University of Innsbruck, 6020 Innsbruck, Austria
Clin Genet . 2017..Our observation of a second case supports the notion that bi-allelic mutations in SEMA3A cause an autosomal recessive type of syndromic short stature...
- Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlationMatthias Baumann
Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria
Eur J Hum Genet 25:262-266. 2017..There is a SYNE1 genotype-phenotype correlation emerging, with more proximal homozygous SYNE1 variants causing recessive cerebellar ataxia of variable onset (SCAR8; ARCA-1)...
- Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsyBirgit Krabichler
Department of Medical Genetics, Molecular and Clinical Pharmacology, Division of Human Genetics, Medical University Innsbruck, Austria
Ann Hum Genet 76:326-31. 2012..Sequence analysis revealed a novel homozygous missense mutation (p.R94W) in a highly conserved segment of exon 2. This is the second family with PME caused by KCTD7 mutations, hence KCTD7 mutations might be a recurrent cause of PME...