학술논문
DISP1deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
Document Type
Article
Author
Lavillaureix, Alinoë; Rollier, Paul; Kim, Artem; Panasenkava, Veranika; De Tayrac, Marie; Carré, Wilfrid; Guyodo, Hélène; Faoucher, Marie; Poirel, Elisabeth; Akloul, Linda; Quelin, Chloe; Whalen, Sandra; Bos, Jessica; Broekema, Marjoleine; van Hagen, Johanna M.; Grand, Katheryn; Allen-Sharpley, Michelle; Magness, Emily; McLean, Scott; Kayserili, Hülya; Altunoglu, Umut; En Qi Chong, Angie; Xue, Shifeng; Jeanne, Mederic; Almontashiri, Naif; Habhab, Wisam; Vanlerberghe, Clemence; Faivre, Laurence; Viora Dupont, Eleonore; Philippe, Christophe; Safraou, Hana; Laffargue, Fanny; Mittendorf, Luisa; Abou Jamra, Rami; Patil, Siddaramappa Jagdish; Dalal, Ashwin; Sarma, Asodu Sandeep; Keren, Boris; Reversade, Bruno; Dubourg, Christèle; Odent, Sylvie; Dupé, Valérie
Source
Genetics in Medicine; 20240101, Issue: Preprints
Subject
Language
ISSN
10983600; 15300366
Abstract
DISP1encodes a transmembrane protein that regulates the secretion of the morphogen, Sonic hedgehog,a deficiency of which is a major cause of holoprosencephaly (HPE). This disorder covers a spectrum of brain and midline craniofacial malformations. The objective of the present study was to better delineate the clinical phenotypes associated with division transporter dispatched-1 (DISP1) variants.