Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata

Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata

Abstract Background Rhizomelic chondrodysplasia punctata (RCDP) is an inherited ultra-rare disease which results in severely impaired physical and mental development. Mutations in one of five genes involved in plasmalogen biosynthesis have been reported to drive disease pathology. Estimates of disea...

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Bibliographic Details
Main Authors: Tarik Luisman, Tara Smith, Shawn Ritchie, Karen E. Malone
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Epidemiology
Rare disease
Plasmalogen
PEX7
GNPAT
AGPS
Online Access:https://doi.org/10.1186/s13023-021-01889-z

Internet

https://doi.org/10.1186/s13023-021-01889-z

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