Keipert syndrome
Definition:
Keipert syndrome is a rare, X-linked disorder characterized by craniofacial and digital abnormalities and variable learning difficulties and sensorineural deafness. It has been reported that pathogenic variants in GPC4 cause this disease.
参考文献:
-
[1]. David J Amor, et al. Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. Am J Med Genet A. 2007 Oct 1;143A(19):2236-41. [Content Brief]
[2]. David J Amor, et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. Am J Hum Genet. 2019 May 2;104(5):914-924. [Content Brief]
生物医学辞典
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.
Molarity Calculator
Dilution Calculator
