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[Clinical characteristics and genetic analysis of a case of ciliopathy caused by novel WDR19 gene variants].

Zhonghua nei ke za zhi - 1 Apr 2026

Gao Y, Guo L J, Zhang M T, Su J X, Liu X M, Zhang B, Wang H D

Abstract excerpt

An 8-year-old girl with growth failure and multisystem involvement was admitted to the Institute of Medical Genetics at Henan Provincial People's Hospital in May 2022. She presented with craniofacial abnormalities, language delay, and psychomotor retardation, suggestive of Sensenbrenner syndrome. Whole-exome sequencing and Sanger sequencing performed on the family revealed that the proband carried two novel...

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PMID: 41942325
DOI: 10.3760/cma.j.cn112138-20250522-00300

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