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Paper Details

Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.
Brain
1
2023
FILIP1, FILIP1 protein, FILIP1 variants, FILIP1opathy, FLNA, FLNC, FLNa, FLNc, Filamin-A-interacting protein 1, Patients, alpha-B-crystallin, autophagic vacuoles, brain malformations, congenital myopathy, dysmorphic features, dysmorphism, fibroblasts, filamin-encoding genes, human, muscle diseases, muscle weakness, myopathology, neurodevelopmental delay, neurological defects, neurological disorders, p, p.[Pro1133Leu] missense variant, patient, patients, recessive disorder
Author NameAffiliation
Christopher SchröderInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen
Hanns Lochm??llerBrain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute
Hanns Lochm??llerThe Ottawa Hospital
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Release 1.2