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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 HospitalBursa, 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 HospitalBursa, Turkey
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Varal, IG
, 
O Gorukmez

O Gorukmez

Department of Genetics, University of Health Sciences, Bursa Yuksek Ihtisas Teaching HospitalBursa, 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 HospitalBursa, Turkey
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Akkurt, MO
 et 
A Akdag

A Akdag

Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching HospitalBursa, Turkey
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Akdag, A
  
28 août 2019
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Catégorie d'article: Case Report
Publié en ligne: 28 août 2019
Pages: 89 - 94
DOI: https://doi.org/10.2478/bjmg-2019-0001
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© 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.

Figure 1

Typical appearance of the patient: short trunk, small thorax, distinctive abdomen and micromelia.
Typical appearance of the patient: short trunk, small thorax, distinctive abdomen and micromelia.

Figure 2

Radiographical findings: short tubular bone with widened metaphyses and non ossified cervical vertebrae, short unfractured ribs, narrow bell-shaped chest, lack of ossification in pelvis and normal ossification of the skull.
Radiographical findings: short tubular bone with widened metaphyses and non ossified cervical vertebrae, short unfractured ribs, narrow bell-shaped chest, lack of ossification in pelvis and normal ossification of the skull.

Figure 3

Integrative Genomics Viewer and chromatogram view of the COL2A1 gene. (a) Excerpt of exome sequencing data visualized with th Integrative Genomics Viewer. (b) Result of DNA sequencing. A novel heterozygous germline mutation, c.2456G>A, p.Gly849Asp on the COL2A1 gene (indicated by a black arrow).
Integrative Genomics Viewer and chromatogram view of the COL2A1 gene. (a) Excerpt of exome sequencing data visualized with th Integrative Genomics Viewer. (b) Result of DNA sequencing. A novel heterozygous germline mutation, c.2456G>A, p.Gly849Asp on the COL2A1 gene (indicated by a black arrow).
Langue:
Anglais
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2 fois par an
Sujets de la revue:
Médecine, Sciences médicales de base, Sciences médicales de base, autres
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