Snijders Blok-Fisher syndrome

Definition

Snijders Blok-Fisher syndrome (SNIBFIS) is a neurodevelopmental disorder with a broad phenotypic spectrum that includes intellectual disability and/or developmental delay, speech and language problems, hypotonia, and autism spectrum disorder. It has been reported that de novo mutations in POU3F3 cause this disease. POU3F3 is a well-known transcription factor involved in the development of the central nervous system.

References:

[1]. Lot Snijders Blok, et al. De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. Am J Hum Genet. 2019 Aug 1;105(2):403-412. [Content Brief]

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

お名前
メール *

	Sorry, but the email address you supplied was invalid.