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Browsing Center for Genomic Regulation (CRG) by Subject "ADAM22"

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Loss-of-function mutations in LGI4, a secreted ligand involved in schwann cell myelination, are responsible for arthrogryposis multiplex congenita

Xue, Shifeng; Gut, Marta; Gut, Ivo Glynne; Melki, Judith (Elsevier, 2017)

Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome ...

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