Publications by authors named "Andreas Kurringer"
Article Synopsis
- This guideline offers practical advice for diagnosing and treating haemophilia in Austria, using expert consensus due to a lack of extensive research.
- It is based on the 2020 WFH guideline but tailored to fit national context and experience.
- The document covers diagnosis, treatment, special considerations for children and adults, trauma management, dental procedures, and psychosocial aspects related to haemophilia.
BCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Here, we established BCAS3 loss-of-function variants as causative for a neurodevelopmental disorder. We report 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3.
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