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Autosomal Recessive Cutis Laxa Type 1 Latest Advances
Find the Latest Research About Autosomal Recessive Cutis Laxa Type 1
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Last Updated: 01/20/2023
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Found 4 publications
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Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
Journal:
PLoS genetics
Published:
June 18, 2021
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SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report.
Journal:
BMC neurology
Published:
February 12, 2021
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New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa.
Journal:
Orphanet journal of rare diseases
Published:
January 29, 2021
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A proposal of rehabilitative approach in the rare disease "De Barsy Syndrome": case report.
Condition:
De Barsy Syndrome
Journal:
La Clinica terapeutica
Treatment Used:
Rehabilitative Approach
Number of Patients:
1
Published:
December 21, 2020
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Showing 1-4 of 4
Last Updated: 01/20/2023