論文

国際誌
2020年

De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.

Human genome variation
  • Yuto Kondo
  • Kohei Aoyama
  • Hisato Suzuki
  • Ayako Hattori
  • Ikumi Hori
  • Koichi Ito
  • Aya Yoshida
  • Mari Koroki
  • Kentaro Ueda
  • Kenjiro Kosaki
  • Shinji Saitoh
  • 全て表示

7
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
DOI
https://doi.org/10.1038/s41439-020-0107-1
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/32528716
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261772
URL
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85085682176&origin=inward
ID情報
  • DOI : 10.1038/s41439-020-0107-1
  • PubMed ID : 32528716
  • PubMed Central 記事ID : PMC7261772

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