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Article

[Detection of EDA gene mutation and phenotypic analysis in patients with hypohidrotic ectodermal dysplasia].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences - 9 Dec 2020

Wu J Y, Yu M, Sun S C, Fan Z Z, Zheng J L, Zhang L T, Feng H L, Liu Y, Han D

Abstract excerpt

OBJECTIVE: To detect the ectodysplasin A (EDA) gene mutation in patients with hypohidro-tic ectodermal dysplasia (HED), and to analyze the distribution pattern of missing permanent teeth and the systemic manifestation of HED patients with EDA gene mutation. METHODS: Twelve HED families were enrolled from clinic for genetic history collection, systemic physical examination and oral examination. Peripheral blood or...

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PMID: 33550332
PMCID: PMC7867966

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