Article
Defining the clinical phenotype of Saul-Wilson syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2020
Ferreira Carlos R, Zein Wadih M, Huryn Laryssa A, Merker Andrea, Berger Seth I, Wilson William G, Tiller George E, Wolfe Lynne A, Merideth Melissa, Carvalho Daniel R, Duker Angela L, Bratke Heiko, Haug Marte Gjøl, Rohena Luis, Hove Hanne B, Xia Zhi-Jie, Ng Bobby G, Freeze Hudson H, Gabriel Melissa, Russi Alvaro H Serrano, Brick Lauren, Kozenko Mariya, Earl Dawn L, Tham Emma, Nishimura Gen, Phillips John A, Gahl William A, Hamid Rizwan, Jackson Andrew P, Grigelioniene Giedre, Bober Michael B
Abstract excerpt
PURPOSE: Four patients with Saul-Wilson syndrome were reported between 1982 and 1994, but no additional individuals were described until 2018, when the molecular etiology of the disease was elucidated. Hence, the clinical phenotype of the disease remains poorly defined. We address this shortcoming by providing a detailed characterization of its phenotype. METHODS: Retrospective chart reviews were performed and...
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