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    Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

    Arthrogryposis multiplex congenita forms a broad group of clinically and etiologically heterogeneous disorders characterized by congenital joint contractures that involve at least two different parts of the body....

    Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali… in Human Genetics (2023)

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