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

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....

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Detalles Bibliográficos
Autores principales: Zhang, Honghong, Sun, Yixi, Zhu, Yuxia, Hong, Jiali, Zheng, Miaomiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8578848/
https://www.ncbi.nlm.nih.gov/pubmed/34778139
http://dx.doi.org/10.3389/fped.2021.748641

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8578848/
https://www.ncbi.nlm.nih.gov/pubmed/34778139
http://dx.doi.org/10.3389/fped.2021.748641

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