A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease

Hum Mutat. 2021 Feb;42(2):213-215. doi: 10.1002/humu.24145. Epub 2020 Dec 8.

Authors

Anna Morgan¹, Savina Dipresa², Licia Turolla², Martina La Bianca¹, Flavio Faletra¹, Giorgia Girotto^{1

3}

Affiliations

¹ Medical Genetics Unit, Institute for Maternal and Child Health-IRCCS, Burlo Garofolo, Trieste, Italy.
² Medical Genetics Unit, Local Health Authority, Treviso, Italy.
³ Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.

PMID: 33559987
DOI: 10.1002/humu.24145

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Congenital Bone Marrow Failure Syndromes
Humans
Radius / pathology
Thrombocytopenia*
Upper Extremity Deformities, Congenital*

Supplementary concepts

Absent radii and thrombocytopenia