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Achondrogenesis type 2 in a newborn with a novel mutation on the COL2A1 gene Cover

Achondrogenesis type 2 in a newborn with a novel mutation on the COL2A1 gene

Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 1 (June 2019)
By: P Dogan,  IG Varal,  O Gorukmez,  MO Akkurt and  A Akdag  
Open Access
|Aug 2019

Authors

P Dogan

pelin_akbas@yahoo.com

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
DOI: https://doi.org/10.2478/bjmg-2019-0001 | Journal eISSN: 2199-5761
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Language: English
Page range: 89 - 94
Published on: Aug 28, 2019
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Achondrogenesis type 2 (ACG2),
COL2A1 mutation,
Lethal skeletal dysplasia
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2019 P Dogan, IG Varal, O Gorukmez, MO Akkurt, A Akdag, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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