Customize your search results with filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 4 publications

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
View publication
Summary: 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.

Journal: BMC neurology
Published: February 12, 2021
View publication
Summary: 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.

Journal: Orphanet journal of rare diseases
Published: January 29, 2021
View publication
Summary: 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.

Condition: De Barsy Syndrome
Journal: La Clinica terapeutica
Treatment Used: Rehabilitative Approach
Number of Patients: 1
Published: December 21, 2020
View publication
Summary: This case report describes a 6-year-old boy diagnosed with De Barsy syndrome (genetic disorder) treated with a rehabilitative approach.
Showing 1-4 of 4