Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.
Mona K MekkawyAlaa K KamelManal M ThomasEngy A AshaatMaha S ZakiOla M EidSamira IsmailSaida A HammadHisham MegahedHeba Ahmed El-AwadyKhaled M RefaatShymaa HussienNivine HelmySally G Abd AllahAmal M MohamedMona O El RubyPublished in: Molecular genetics & genomic medicine (2020)
WHS is a contiguous gene syndrome resulting from hemizygosity of the terminal 2 Mb of 4p16.3 region. The Branchial fistula, detected in one of our patients is a new finding that, to our knowledge, was not reported.