两种新突变的鉴定：突显KBG综合征的不完全外显率 - Suppr

Identification of Two Novel Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.

作者信息

Amllal Nada, Elalaoui Siham Chafai, Zerkaoui Maria, Chiguer Amal, Afif Lamia, Izgua Amal Thimou, Sefiani Abdelaziz, Lyahyai Jaber

机构信息

Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genomics Center of Human Pathologies, Faculty of Medicine and Pharmacy, University Mohammed V, Rabat, Morocco.

Department of Medical Genetics, National Institute of Health, Rabat, Morocco.

出版信息

Ann Lab Med. 2024 Jan 1;44(1):110-117. doi: 10.3343/alm.2024.44.1.110. Epub 2023 Sep 4.

DOI:10.3343/alm.2024.44.1.110

PMID:37665295

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10485853/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3615/10485853/5d5adf639b95/alm-44-1-110-f1.jpg

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Identification of Two Novel Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.

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