Related Experiment Video
Updated: Jan 26, 2026

Detection of a CDH1 Rare Transcript Variant in Fresh-frozen Gastric Cancer Tissues by Chip-based Digital PCR
Published on: February 5, 2018
Severe digital malformations in a rare variant of fibrodysplasia ossificans progressiva
Zoran Gucev1, Velibor Tasic1, Dijana Plaseska-Karanfilska2
1Medical Faculty - Skopje, University Ss Cyril and Methodius of Skopje, Skopje, Republic of North Macedonia.
Abstract:
A 16-year-old girl with a history of nontraumatic swelling of both forearms, osteochondromas of the knees, heterotopic ossification of the neck and back, severe malformations of all digits with hypoplastic or absent nails, alopecia partialis of the scalp, and moderate cognitive impairment was seen for diagnostic evaluation. Whole exome sequencing identified an activating mutation of ACVR1 (c.983G > A; p.Gly328Glu) which confirmed a suspected FOP variant. The delayed diagnosis of an FOP variant in this patient could have been avoided if the significance of severe digital malformations had been recognized, especially in the setting of progressive heterotopic ossification.
Related Concept Videos
Histone Variants at the Centromere
Social Foundations of Self IV: Self in Digital Communication
Gene Flow
Protein Complexes with Interchangeable Parts
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order...
Histone Modification
Acetylation
The enzyme histone acetyltransferase adds acetyl group to the histones. Another enzyme, histone...
Frequency-dependent Selection

