Lamb-Shaffer syndrome

Definition:

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by developmental delay, mild to moderate intellectual disability, speech delay, and mild characteristic facial appearance. It is caused by haploinsufficiency of SOX5 at 12p12.1. SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system.

References:

[1]. Addie Nesbitt, et al. Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. Am J Med Genet A. 2015 Nov;167A(11):2548-54. [Content Brief]

[2]. Allen N Lamb, et al. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat. 2012 Apr;33(4):728-40. [Content Brief]

[3]. Daisuke Fukushi, et al. Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation. Gene. 2018 May 20;655:65-70. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

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 #

Name
Email *

	Sorry, but the email address you supplied was invalid.