Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondyloepiphyseal dysplasia congenita

© FUNPEC-RP. Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to different clinical courses and prognoses. In this study, we have described a case of a Thai infant with short stature, flat face,...

Full description

Saved in:
Bibliographic Details
Main Authors: A. Sangsin, C. Srichomthong, M. Pongpanich, K. Suphapeetiporn, V. Shotelersuk
Format: Journal
Published: 2018
Subjects:
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84961684960&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/55231
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Chiang Mai University
Be the first to leave a comment!
You must be logged in first