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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

Figures & Tables

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).
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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