Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern
DIAGNOSTICS（2022）
关键词
Ectodysplasin-A (EDA),skewed X-chromosome inactivation,X-linked hypohidrotic ectodermal dysplasia (XLHED),phenotypic analysis
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