2020年
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.
Human genome variation
- 巻
- 7
- 号
- 1
- 開始ページ
- 19
- 終了ページ
- 19
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1038/s41439-020-0107-1
- 出版者・発行元
- Human Genome Variation
We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic facial features, whereas NPPC haploinsufficiency causes short stature and small hands. This is the first report of a unique phenotype, which is secondary to a microdeletion encompassing TRIP12 and NPPC.
- リンク情報
- ID情報
-
- DOI : 10.1038/s41439-020-0107-1
- PubMed ID : 32528716
- PubMed Central 記事ID : PMC7261772