Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

doi:10.1038/gim.2017.249

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Article

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2018

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

Abstract excerpt

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 identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription...

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PMID: 29469822
DOI: 10.1038/gim.2017.249
PMCID: PMC6105555

Genes

LZTR1

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