Ontology highlight
ABSTRACT:
SUBMITTER: Johnston JJ
PROVIDER: S-EPMC6105555 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Johnston Jennifer J JJ van der Smagt Jasper J JJ Rosenfeld Jill A JA Pagnamenta Alistair T AT Alswaid Abdulrahman A Baker Eva H EH Blair Edward E Borck Guntram G Brinkmann Julia J Craigen William W Dung Vu Chi VC Emrick Lisa L Everman David B DB van Gassen Koen L KL Gulsuner Suleyman S Harr Margaret H MH Jain Mahim M Kuechler Alma A Leppig Kathleen A KA McDonald-McGinn Donna M DM Can Ngoc Thi Bich NTB Peleg Amir A Roeder Elizabeth R ER Rogers R Curtis RC Sagi-Dain Lena L Sapp Julie C JC Schäffer Alejandro A AA Schanze Denny D Stewart Helen H Taylor Jenny C JC Verbeek Nienke E NE Walkiewicz Magdalena A MA Zackai Elaine H EH Zweier Christiane C Zenker Martin M Lee Brendan B Biesecker Leslie G LG
Genetics in medicine : official journal of the American College of Medical Genetics 20180222 10
<h4>Purpose</h4>To characterize the molecular genetics of autosomal recessive Noonan syndrome.<h4>Methods</h4>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 polymerase chain reaction.<h4>Results</h4>Twelve families with a total of ...[more]