hrp0095p2-108 | Fat, Metabolism and Obesity | ESPE2022
, Liang Liyang
, Hou Lele
, Zhang Lina
, Meng Zhe
Objectives: To present Chung-Jansen Syndrome or CHUJANS by a de novo variant in the pleckstrin homology domain-interacting protein (PHIP) gene and compare the clinical phenotype with previous case reports; ②To provide a novel genetic detection methods with whole-exome sequencing(WES) and whole genome sequencing(WGS) and Sanger sequencing for rare genetic diseases.Patients and methods: Following collecting clinical...