Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Purpose To characterize the molecular genetics of autosomal recessive Noonan syndrome. Methods Families underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to id...

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Main Authors:	Johnston, JJ, van der Smagt, JJ, Rosenfeld, JA, Pagnamenta, AT, Alswaid, A, Baker, EH, Blair, E, Borck, G, Brinkmann, J, Craigen, W, Dung, VC, Emrick, L, Everman, DB, van Gassen, KL, Gulsuner, S, Harr, MH, Jain, M, Kuechler, A, Leppig, KA, McDonald-McGinn, DM, Can, NTB, Peleg, A, Roeder, ER, Rogers, RC, Sagi-Dain, L, Sapp, JC, Schäffer, AA, Schanze, D, Stewart, H, Taylor, JC, Verbeek, NE, Walkiewicz, MA, Zackai, EH, Zweier, C, Zenker, M, Lee, B, Biesecker, LG
Format:	Journal article
Language:	English
Published:	Springer Nature 2018

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

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