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Updated: Dec 27, 2025

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
Published on: August 11, 2016
[Clinical practice guidelines for albinism]
Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association1, Wei Li, Aihua Wei
1Department of Birth Defect Genetics, Beijing Institute of Pediatrics; Center for Genetics and Birth Defect Prevention and Control, National Children's Medical Center; Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China. liwei@bch.com.cn.
Abstract:
Albinism is an autosomal or X-linked recessive Mendelian trait in man, which mainly manifests as hypopigmentation and related lesions of eye, skin and hair. At least 18 genes have so far been identified as causative genes for albinism. The mutational spectrum is population-specific. Molecular genotyping of albinism is important for genetic and prenatal diagnosis, and is a prerequisite for the practice of precision medicine. Based on long-term study of albinism in Chinese population, a guideline for the clinical management of albinism is provided.
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