Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Genetics in Medicine

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

  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   Can, Ngoc Thi Bich ^j   Peleg, Amir ^p   Roeder, Elizabeth R ^c   Rogers, R Curtis ^k   Sagi Dain, Lena ^p   Sapp, Julie C ^a   Schäffer, Alejandro A ^f   Schanze, Denny ⁱ   Stewart, Helen ^g   Taylor, Jenny C ^d   Verbeek, Nienke E ^b   Walkiewicz, Magdalena A ^c   Zackai, Elaine H ^m   Zweier, Christiane ^q   Zenker, Martin ⁱ   Lee, Brendan ^c   Biesecker, Leslie G ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

^g OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^h UNIVERSITY OF ULM   (Germany)

ⁱ UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^j Institute for the Protection of Children's Health (   (Viet Nam)

^k GREENWOOD GENETIC CENTER   (United States)

^l UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^m CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

ⁿ UNIVERSITY HOSPITAL ESSEN   (Germany)

^o KAISER PERMANENTE   (United States)

^p CARMEL MEDICAL CENTER   (Israel)

^q UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

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;

ISOPROTEIN; LZTR1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; NOONAN SYNDROME; PEDIGREE; PROTEIN ISOFORMS; RNA SPLICING; SIBLINGS; TRANSCRIPTION FACTORS;

EID: 85054714726     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.249     Document Type: Article

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