Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype

Karen Grønskov, Birgitte Diness, Michelle Stahlhut, Monica Zilmer, Zeynep Tümer, Anne-Marie Bisgaard, Karen Brøndum-Nielsen

2 Citations (Scopus)

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Keyphrases

Immunology and Microbiology

Biochemistry, Genetics and Molecular Biology