Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

BACKGROUND: Wolf–Hirschhorn syndrome (WHS) (OMIM 194190) is a multiple congenital anomalies/intellectual disability syndrome. It is caused by partial loss of genetic material from the distal portion of the short arm of chromosome. METHODS: We studied the phenotype–genotype correlation. RESULTS: We p...

詳細記述

保存先:
書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: Mekkawy, Mona K., Kamel, Alaa K., Thomas, Manal M., Ashaat, Engy A., Zaki, Maha S., Eid, Ola M., Ismail, Samira, Hammad, Saida A., Megahed, Hisham, ElAwady, Heba, Refaat, Khaled M., Hussien, Shymaa, Helmy, Nivine, Abd Allah, Sally G., Mohamed, Amal M., El Ruby, Mona O.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2020
主題:
Original Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC8077161/
https://ncbi.nlm.nih.gov/pubmed/33217222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1546
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料