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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
Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital
Bursa, Turkey
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Dogan, P
,
IG Varal
IG Varal
Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital
Bursa, Turkey
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Varal, IG
,
O Gorukmez
O Gorukmez
Department of Genetics, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital
Bursa, Turkey
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Gorukmez, O
,
MO Akkurt
MO Akkurt
Department of Obstetrics and Gynecology, Division of Perinatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital
Bursa, Turkey
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Akkurt, MO
and
A Akdag
A Akdag
Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital
Bursa, Turkey
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Akdag, A
Aug 28, 2019
Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 1 (June 2019)
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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.
