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Found 4 publications

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.

SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.

New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.

A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report.

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