The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant

RATIONALE: This case report expands the mutation and phenotypic spectra of Beaulieu-Boycott-Innes syndrome (BBIS), and will be valuable for mutation-based pre- and post-natal screening of BBIS when conducting a genetic diagnosis. PATIENT CONCERNS: A 4-year old boy from Guilin City, Guangxi Zhuang Au...

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Detalles Bibliográficos
Autores principales: Zhang, Qiang, Chen, Shaoke, Qin, Zailong, Zheng, Haiyang, Fan, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220430/
https://www.ncbi.nlm.nih.gov/pubmed/32282736
http://dx.doi.org/10.1097/MD.0000000000019751

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220430/
https://www.ncbi.nlm.nih.gov/pubmed/32282736
http://dx.doi.org/10.1097/MD.0000000000019751

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