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Clinical diagnosis and genetic counseling of atypical ataxia-telangiectasia in a Chinese family

Ataxia-telangiectasia (A-T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM serine/threonine kinase (ATM) gene. Typically, it presents in early childhood with progressive cerebellar dysfunction, accompanied by immunodeficiency and oculocutaneous telangiectasia....

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Detalles Bibliográficos
Autores principales:	Cao, Jiangxia, Shen, Ruiqin, Zhang, Wenqian, Mao, Bing, Shi, Qirong, Zhou, Rui, Liu, Zijing, Zeng, Bing, Chen, Xiaoling, Zhang, Cai, Lu, Min, Han, Peng, Wu, Jing, Zhou, Aifen, Tan, Xuemei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2019
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6471340/ https://www.ncbi.nlm.nih.gov/pubmed/30816533 http://dx.doi.org/10.3892/mmr.2019.9992

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