| Autor: |
Yukari Kobayashi, Yuki Ito, Kosuke Taniguchi, Kana Harada, Michihiro Yamamura, Taisuke Sato, Ken Takahashi, Hiroshi Kawame, Kenichiro Hata, Osamu Samura, Aikou Okamoto |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2054-345X |
| DOI: |
10.1038/s41439-022-00218-5 |
| Popis: |
Abstract Achondrogenesis type II (ACG2) is a lethal skeletal disorder caused by pathogenic variants in COL2A1. We present a fetus with cystic hygroma and severe shortening of the limbs at 14 weeks of gestation. We performed postnatal genetic analysis of the parents and fetus to diagnose the disease. A novel missense variant of COL2A1 [NM_001844.5: c.2987G>A, (p. Gly996Asp)] was identified, which led to the ACG2 diagnosis. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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