Article
Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.
Molecular genetics & genomic medicine - 1 Feb 2021
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
Abstract excerpt
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 present the clinical manifestations and cytogenetic results of 10 unrelated Egyptian patients with 4p deletions....
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