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A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient.

Orthodontics & craniofacial research - 1 Nov 2021

Bai Shanshan, Geng Yingnan, Duan Huichuan, Xu Liang, Yu Zheyuan, Yuan Jie, Wei Min

Abstract excerpt

INTRODUCTION: Craniosynostosis is one of the most common craniofacial abnormalities. It involves premature closure of one or more cranial sutures. Mutations in many genes have been and continue to be identified in patients. SETTINGS AND SAMPLE POPULATION: Whole blood samples were collected from the patient and family members. MATERIAL AND METHODS: Whole exome sequencing was performed to identify potential...

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PMID: 33527670
DOI: 10.1111/ocr.12473

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