Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report

RATIONALE: Bohring-Opitz syndrome is a severe congenital disorder associated with a de novo mutation in the additional sex combs-like 1 (ASXL1) gene, and it is characterized by symptoms that include developmental delay and musculoskeletal and neurological features. PATIENT CONCERNS: The patient was...

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Detalles Bibliográficos
Autores principales: Wang, Dongbo, Yuan, Xin, Guo, Haichun, Yan, Shuyuan, Wang, Guohong, Wang, Yanling, Wang, Tuanmei, He, Jun, Peng, Xiangwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812699/
https://www.ncbi.nlm.nih.gov/pubmed/35119035
http://dx.doi.org/10.1097/MD.0000000000028759

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812699/
https://www.ncbi.nlm.nih.gov/pubmed/35119035
http://dx.doi.org/10.1097/MD.0000000000028759

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