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Article

[A pedigree study of laryngo-onycho-cutaneous syndrome with a novel mutation on LAMA3 gene].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery - 1 Mar 2022

Li Cuilian, Liu Ling, Ma Jing, Zu Jinyan, Ma Xiuli, Sun Meihua, Shu Hong, Zhou Jun

Abstract excerpt

Objective:To detect genetic mutations in a case of laryngo-onycho-cutaneous syndrome, and to explore the possible molecular biological pathogenic causes. Methods:With informed consent, the family clinical data of the child with laryngo-onycho-cutaneous syndrome were collected, peripheral blood of the protester and his parents was collected and DNA was extracted, and gene detection was performed by high-throughput...

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Identifiers

PMID: 35193344
DOI: 10.13201/j.issn.2096-7993.2022.03.011
PMCID: PMC10128288

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