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Volumn 20, Issue 10, 2018, Pages 1175-1185

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

(37)  Johnston, Jennifer J a   van der Smagt, Jasper J b   Rosenfeld, Jill A c   Pagnamenta, Alistair T d   Alswaid, Abdulrahman e   Baker, Eva H f   Blair, Edward g   Borck, Guntram h   Brinkmann, Julia i   Craigen, William c   Dung, Vu Chi j   Emrick, Lisa c   Everman, David B k   van Gassen, Koen L b   Gulsuner, Suleyman l   Harr, Margaret H m   Jain, Mahim c   Kuechler, Alma n   Leppig, Kathleen A o   McDonald McGinn, Donna M m   more..


Author keywords

autosomal recessive inheritance; cardiomyopathy; leukemia; multiple congenital anomalies; Noonan syndrome

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME DELETION 22Q11; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOME; HEART DISEASE; HUMAN; INFANT; LEUKEMIA; LINKAGE ANALYSIS; LZTR1 GENE; MALE; NOONAN SYNDROME; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION; STILLBIRTH; WHOLE EXOME SEQUENCING; ADOLESCENT; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HETEROZYGOTE; MUTATION; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; RNA SPLICING; SIBLING;

EID: 85054714726     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.249     Document Type: Article
Times cited : (151)

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