Related Experiment Video
Updated: Feb 5, 2026

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
[Clinical and molecular study in a family with multiple osteochondromatosis]
F Cammarata-Scalisi1, F Stock2, A Avendaño1
1Unidad de Genética Médica. Departamento de Puericultura y Pediatría. Facultad de Medicina. Universidad de Los Andes. Mérida, Venezuela.
Abstract:
We present two cases of a family with the diagnosis of multiple osteochondromatosis, which was confirmed by molecular study with nonsense in heterozygosis mutation c.1219CT, (p.Gln407Stop) in the EXT1 gene. In these cases, the Madelung deformity was presented in one patient as an uncommon finding and chondrosarcoma as a feared complication in the other case, highlighting intrafamilial variation, which is why individual and interdisciplinary evaluation is recommended. In addition, before a genetic entity should provide adequate and timely family genetic counseling to all its members.
More Related Videos
11:35The Multiple Sclerosis Performance Test MSPT: An iPad-Based Disability Assessment Tool
Published on: June 30, 2014
10:40Comprehensive Workflow for the Genome-wide Identification and Expression Meta-analysis of the ATL E3 Ubiquitin Ligase Gene Family in Grapevine
Published on: December 22, 2017
Related Concept Videos
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Gene Families
Protein Families
Protein Families
Family Therapy
Strategic Family Therapy
Strategic family therapy emphasizes resolving communication barriers and improving problem-solving abilities...
Multiple Allele Traits