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Diagnosis and genetic analysis of a case with mandibuloacral dysplasia type B due to compound heterozygous mutations of the ZMPSTE24 gene.

Yi chuan = Hereditas - 20 Dec 2022

Wu Dan-Dan, Li Rong, Li Xiao-Nan, Liu Qian-Qi, Dou Li-Hua

Abstract excerpt

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder, mainly caused by pathogenic variants of the LMNA and ZMPSTE24 genes. In this study, we reported the first case of a patient with type B cranial and mandibular dysplasia in China. The patient presented with distinctive facial features, feeding difficulties, significant physical retardation, and overall developmental delay with abnormal tooth...

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PMID: 36927562
DOI: 10.16288/j.yczz.22-117

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