Multigene testing panels reveal pathogenic variants in sporadic breast cancer patients in northern China

Autor: Yinfeng Liu, Jie Zheng, Yue Xu, Ji Lv, Zizheng Wu, Kai Feng, Jiani Liu, Weitao Yan, Liguang Wei, Jiangman Zhao, Lisha Jiang, Meng Han

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Background: Breast cancer, the most prevalent malignancy in women worldwide, presents diverse onset patterns and genetic backgrounds. This study aims to examine the genetic landscape and clinical implications of rare mutations in Chinese breast cance

Externí odkaz: https://doaj.org/article/6994aa90844f41718e2b17ec5ac096d8

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

Autor: Hatem El-Shanti, Yasser Al-Sarraj, Tawfeg Ben-Omran, Hala Boulos, Rachid C. Maroun, Rehab Ali, Khaoula Errafii, Patrick A. Curmi, Marios Kambouris

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.80. ⟨10.1186/1750-1172-9-80⟩
Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.80. ⟨10.1186/1750-1172-9-80⟩

Background A consanguineous Arab family is affected by an apparently novel autosomal recessive disorder characterized by cognitive impairment, failure-to-thrive, hypotonia and dysmorphic features including bilateral ptosis and epicanthic folds, synop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25f2586afd2f63362adb1c490cfbaafd
https://doi.org/10.1186/1750-1172-9-80

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