Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
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Author / Creator
Yamamoto, Guilherme Lopes , Aguena, Meire , Gos, Monika , Hung, Christina , Pilch, Jacek , Fahiminiya, Somayyeh , Abramowicz, Anna , Cristian, Ingrid , Buscarilli, Michelle , Naslavsky, Michel Satya , Malaquias, Alexsandra C , Zatz, Mayana , Bodamer, Olaf , Majewski, Jacek , Jorge, Alexander A L , Pereira, Alexandre C , Kim, Chong Ae , Passos-Bueno, Maria Rita and Bertola, Débora Romeo
Publisher
England: BMJ Publishing Group LTD
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Language
English
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Publisher
England: BMJ Publishing Group LTD
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Contents
Background Noonan syndrome is an autosomal dominant, multisystemic disorder caused by dysregulation of the RAS/mitogen activated protein kinase (MAPK) pathway. Heterozygous, pathogenic variants in 11 known genes account for approximately 80% of cases. The identification of novel genes associated with Noonan syndrome has become increasingly challeng...
Alternative Titles
Full title
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
Authors, Artists and Contributors
Author / Creator
Aguena, Meire
Gos, Monika
Hung, Christina
Pilch, Jacek
Fahiminiya, Somayyeh
Abramowicz, Anna
Cristian, Ingrid
Buscarilli, Michelle
Naslavsky, Michel Satya
Malaquias, Alexsandra C
Zatz, Mayana
Bodamer, Olaf
Majewski, Jacek
Jorge, Alexander A L
Pereira, Alexandre C
Kim, Chong Ae
Passos-Bueno, Maria Rita
Bertola, Débora Romeo
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1808694689
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1808694689
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2015-103018
