Last Updated :2025/11/28

Timothy syndrome

Proper noun
Japanese Meaning
稀な常染色体優性遺伝の疾患で、身体の奇形および神経学的・発達障害を特徴とする。
What is this buttons?

研究者たちは、身体奇形や神経・発達障害を特徴とする希少な常染色体優性疾患を研究し、心臓や発達に現れる症状を説明するのに役立つCACNA1C遺伝子の特定の変異を見つけました。

Quizzes for review

A rare autosomal dominant disorder characterized by physical malformations and neurological and developmental defects.

音声機能が動作しない場合はこちらをご確認ください
See correct answer

Timothy syndrome

Researchers studying Timothy syndrome identified a specific mutation in the CACNA1C gene that helps explain the cardiac and developmental symptoms.

See correct answer

Researchers studying Timothy syndrome identified a specific mutation in the CACNA1C gene that helps explain the cardiac and developmental symptoms.

音声機能が動作しない場合はこちらをご確認ください

English - English

Word Edit Setting
  • Users who have edit permission for words - All Users
  • Screen new word creation
  • Screen word edits
  • Screen word deletion
  • Screen the creation of new headword that may be duplicates
  • Screen changing entry name
  • Users authorized to vote on judging - Editor
  • Number of votes required for decision - 1
Sentence Edit Setting
  • Users who have edit permission for sentences - All Users
  • Screen sentence deletion
  • Users authorized to vote on judging - Editor
  • Number of votes required for decision - 1
Quiz Edit Setting
  • Users who have edit permission for quizzes - All Users
  • Users authorized to vote on judging - Editor
  • Number of votes required for decision - 1
Editing Guideline

Login / Sign up

 

Download the app!
DiQt

DiQt

Free

★★★★★★★★★★