Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A

Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A

Abstract Wiedemann‐Rautenstrauch Syndrome (WRS; MIM 264090) is an extremely rare and highly heterogeneous syndrome that is inherited in a recessive fashion. The patients have hallmark features such as prenatal and postnatal growth retardation, short stature, a progeroid appearance, hypotonia, facial...

Full description

Bibliographic Details
Main Authors: Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid
Format: Article
Language:English
Published: Wiley 2024-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Biallelic missense variants
consanguineous family
POLR3A
WES
WRS
Online Access:https://doi.org/10.1002/mgg3.2274

Internet

https://doi.org/10.1002/mgg3.2274

Similar Items