Achondrogenesis type IA

Definition:

Achondrogenesis type IA is an extremely rare neonatal lethal chondrodysplasia. The disorder shows poorly ossified vertebral bodies/skull and completely lacked columnar-zone of the growth plate cartilage. Retention of fibrillar material within the rough endoplasmic reticulum is caused by mutated TRIP11 encoding Golgi-associated microtubule-binding protein 210 in the Golgi apparatus.

References:

[1]. Hudson H Freeze, et al. Achondrogenesis type 1A--from mouse to human. N Engl J Med. 2010 Jan 21;362(3):266-7. [Content Brief]

[2]. Patrick Smits, et al. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med. 2010 Jan 21;362(3):206-16. [Content Brief]

[3]. Thomas Aigner, et al. Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype. Pediatr Dev Pathol. 2007 Jul-Aug;10(4):328-34. [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.