2022年3月31日
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
Human genome variation
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- 巻
- 9
- 号
- 1
- 開始ページ
- 9
- 終了ページ
- 9
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1038/s41439-022-00187-9
We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His family history included two fetuses with anencephaly with or without cleft lip/palate and polydactyly with no genetic information. Careful attention should be given to the interpretation of this rare pattern.
- リンク情報
- ID情報
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- DOI : 10.1038/s41439-022-00187-9
- PubMed ID : 35361766
- PubMed Central 記事ID : PMC8971417