Publications by authors named "Sanna Gudmundsson"

7Publications

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Eur J Med Genet 2019 Jun 17;62(6):103526. Epub 2018 Aug 17.

Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, 75108, Uppsala, Sweden. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183018
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http://dx.doi.org/10.1016/j.ejmg.2018.08.007DOI Listing
June 2019

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

Am J Med Genet A 2018 06 16;176(6):1405-1410. Epub 2018 Apr 16.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.38691DOI Listing
June 2018