Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome

Autor: Julie Hoover-Fong, David Valle, Andres Dufke, Ethylin Wang Jabs, Jeske J.T. van Harssel, John C. Carey, Nara Sobreira, Angela Robles, Carlos E. Speck-Martins, Aida Telegrafi, Bryn D. Webb, Irini Manoli, Leah Fleming, Alain Verloes, Sarah M. Robbins, Richard J. Redett, Gunnar Houge, Elizabeth C. Engle, David R. FitzPatrick

Publikováno v: Telegrafi, A, Webb, B D, Robbins, S M, Speck-Martins, C E, FitzPatrick, D, Fleming, L, Redett, R, Dufke, A, Houge, G, van Harssel, J J T, Verloes, A, Robles, A, Manoli, I, Engle, E C, Jabs, E W, Valle, D, Carey, J & Hoover-Fong, J E & Sobreira, N L M 2017, ' Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome ', American Journal of Medical Genetics Part A, vol. 173, no. 10 . https://doi.org/10.1002/ajmg.a.38375

Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyph

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https://www.pure.ed.ac.uk/ws/files/43747134/Identification_of_STAC3_variants_in_non_Native_American_families_with_overlapping_features_of_Carey_Fineman_Ziter_syndrome_and_Moebius_syndrome.docx