Case Report: Prenatal Diagnosis for a Rett Syndrome Family Caused by a Novel MECP2 Deletion With Heteroduplexes of PCR Product

• 主要な著者: Honghong Zhang (著者), Yixi Sun (著者), Yuxia Zhu (著者), Jiali Hong (著者), Miaomiao Zheng (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2021-10-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Rett syndrome is an X-linked dominant, postnatal neurological disorder. Approximately 80-90% of classic Rett syndrome patients harbor mutations in the coding region of MECP2. Somatic or germline MECP2 mosaicism is not rare, and paternal germline MECP2 mosaicism occurs in especially high proportions....