Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review

INTRODUCTION: Cockayne syndrome (CS) is a rare multisystemic autosomal recessive disease. The primary manifestations of which are developmental delay, neurological impairment, abnormal skin sensitivity to sunlight and unique facial appearance as sunken eyes, large ears, and thin large nose. The diso...

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Detalles Bibliográficos
Autores principales: Kou, Yao, Shboul, Mohammad, Wang, Zhihao, Shersheer, Qasem, Lyu, Zhaojie, Liu, Peirong, Zhao, Xiaodong, Tian, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6112894/
https://www.ncbi.nlm.nih.gov/pubmed/30113454
http://dx.doi.org/10.1097/MD.0000000000011636

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