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[Clinical phenotype and genetic analysis of a Chinese pedigree affected with familial progressive hyperpigmentation

Zhongwei Xu1, Zhe Su, Rongfei Zheng

  • 1Department of Endocrinology, Shenzhen Children's Hospital, Shenzhen, Guangdong 518038, China. Su_zhe@126.com.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|December 1, 2022
PubMed

Insights

Familial progressive hyperpigmentation and hypopigmentation (FPHH) in a Chinese family was linked to a novel KITLG gene variant. This discovery aids in diagnosing infants with progressive skin pigmentation changes.

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology
Abstract

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