Gnathodiaphyseal dysplasia caused by mutations in ANO5

Gnathodiaphyseal dysplasia caused by mutations in ANO5

Objective To identify the clinical features and pathogenic variants in two unrelated families with gnathodiaphyseal dysplasia (GDD), a rare genetic bone disorder. Methods Facial and limb deformities and skeletal morphology were observed in the probands and their family members. Peripheral blood samp...

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Bibliographic Details
Main Author:	ZHENG Chaoqun, CUI Geping, REN Xiuzhi, ZHAO Xiuli
Format:	Article
Language:	zho
Published:	Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. 2024-11-01
Series:	Jichu yixue yu linchuang
Subjects:	gnathodiaphyseal dysplasia\|whole exome sequencing\|ano5\|variants
Online Access:	https://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2024-44-11-1504.pdf
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