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Unilateral Condylar Hyperplasia in Hemifacial Hyperplasia? genetic proof of overgrowth

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NIAID Data Ecosystem2026-04-25 收录
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https://www.ncbi.nlm.nih.gov/sra/SRP218516
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资源简介:
Hemifacial hyperplasia (HFH; also reported on as hemifacial hypertrophy) is an entity that becomes evident as a severe asymmetry of the face. All affected tissues, including skin, muscles, fat, and bone, can be increased in volume. Generally, it is present at birth, grows proportional subsequently, and ceases to grow at the end of puberty. The following genes were screened using NGS: AKT1, AKT3, MTOR, PIK3CA, PIK3R2, PTEN, TSC1 and TSC2 and a variant in the PIK3CA gene was identified.
创建时间:
2019-09-01
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