Login
Register
Reset Password
Publish & Distribute
Publishing Solutions
Distribution Solutions
Subjects
Architecture and Design
Arts
Business and Economics
Chemistry
Classical and Ancient Near Eastern Studies
Computer Sciences
Cultural Studies
Engineering
General Interest
Geosciences
History
Industrial Chemistry
Jewish Studies
Law
Library and Information Science, Book Studies
Life Sciences
Linguistics and Semiotics
Literary Studies
Materials Sciences
Mathematics
Medicine
Music
Pharmacy
Philosophy
Physics
Social Sciences
Sports and Recreation
Theology and Religion
Publications
Journals
Books
Proceedings
Publishers
Blog
Contact
Search
EUR
USD
GBP
English
English
Deutsch
Polski
Español
Français
Italiano
Cart
Home
Journals
Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 1 (June 2019)
Open Access
Achondrogenesis type 2 in a newborn with a novel mutation on the
COL2A1
gene
P Dogan
P Dogan
,
IG Varal
IG Varal
,
O Gorukmez
O Gorukmez
,
MO Akkurt
MO Akkurt
and
A Akdag
A Akdag
| Aug 28, 2019
Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 1 (June 2019)
About this article
Previous Article
Next Article
Abstract
Article
Figures & Tables
References
Authors
Articles in this Issue
Preview
PDF
Cite
Share
Article Category:
Case Report
Published Online:
Aug 28, 2019
Page range:
89 - 94
DOI:
https://doi.org/10.2478/bjmg-2019-0001
Keywords
Achondrogenesis type 2 (ACG2)
,
COL2A1 mutation
,
Lethal skeletal dysplasia
© 2019 Dogan P, Varal IG, Gorukmez O, Akkurt MO, Akdag A, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
P Dogan
Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital
Bursa, Turkey
IG Varal
Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital
Bursa, Turkey
O Gorukmez
Department of Genetics, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital
Bursa, Turkey
MO Akkurt
Department of Obstetrics and Gynecology, Division of Perinatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital
Bursa, Turkey
A Akdag
Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital
Bursa, Turkey