Open AccessAutosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
Author(s) -
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. McDonaldMcGinn,
Ngoc Thi Bich Can,
Amir Peleg,
Elizabeth Roeder,
R. Curtis Rogers,
Lena SagiDain,
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
Publication year - 2018
Publication title -
genetics in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.509
H-Index - 128
eISSN - 1530-0366
pISSN - 1098-3600
DOI - 10.1038/gim.2017.249
Subject(s) - noonan syndrome , genetics , missense mutation , exome , biology , exome sequencing , compound heterozygosity , genetic linkage , genetic heterogeneity , allele , mutation , phenotype , gene
To characterize the molecular genetics of autosomal recessive Noonan syndrome.
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