Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

著者: Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vũ Chí Dũng, Lisa Emrick, David B. Everman, Koen L.I. van Gassen, Süleyman Gülsüner, Margaret Harr, Mahim Jain, Alma Kuechler, Kathleen A. Leppig, Donna M. McDonald‐McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth Roeder, R. Curtis Rogers, Lena Sagi‐Dain, Julie C. Sapp, Alejandro A. Schäffer, Denny Schanze, Helen Stewart, Jenny C. Taylor, Nienke E. Verbeek, Magdalena Walkiewicz, Elaine H. Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G. Biesecker - Genetics in Medicine 2018 被引用: 220