P143: Clinical investigation of bleeding diatheses in patients with Hermansky-Pudlak syndrome* ανά Christopher Song, Wendy Introne, Kevin O'Brien, Srikar Kuppa, Thomas Markello, William Gahl, May Christine Malicdan, Allan Alexander

Λήψη πλήρους κειμένου

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. ανά Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams, Peter J Steinbach, Brie K Fuqua, Xenia Parisi, Stephen G Kaler, Christopher D Vulpe, Gregory J Anderson, William A Gahl, May Christine V Malicdan

Λήψη πλήρους κειμένου

GGPS1 mutations cause muscular dystrophy/hearing loss/ovarian insufficiency syndrome ανά Foley, AR, Zou, Y, Dunford, JE, Rooney, J, Chandra, G, Xiong, H, Straub, V, Voit, T, Romero, N, Donkervoort, S, Hu, Y, Markello, T, Horn, A, Qebibo, L, Dastgir, J, Meilleur, KG, Finkel, RS, Fan, Y, Mamchaoui, K, Duguez, S, Nelson, I, Laporte, J, Santi, M, Malfatti, E, Maisonobe, T, Touraine, P, Hirano, M, Hughes, I, Bushby, K, Oppermann, U, Böhm, J, Jaiswal, JK, Stojkovic, T, Bönnemann, CG

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism ανά Youn Hee Jee, Julian C. Lui, Dana Marafi, Zhi-Jie Xia, Ruchika Bhatia, Elaine Zhou, Isabella Herman, Adrian Temnycky, Philip Whalen, Gene Elliot, Ellen W. Leschek, Robin Wijngaard, Ronald van Beek, Annemarie de Vreugd, Maaike C. de Vries, Clara D.M. van Karnebeek, Machteld M. Oud, Thomas C. Markello, Kevin M. Barnes, Hadil Alrohaif, Hudson H. Freeze, William A. Gahl, May Christine V. Malicdan, Jennifer E. Posey, James R. Lupski, Jeffrey Baron

Λήψη πλήρους κειμένου