Literature DB >> 29959388

Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.

Marilena Nakaguma1, Alexander A L Jorge2, Ivo J P Arnhold3.   

Abstract

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Year:  2018        PMID： 29959388     DOI： 10.1038/s41436-018-0041-5

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  5 in total

Review 1.  LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.

Authors:  Kirsten M Farncombe; Emily Thain; Carolina Barnett-Tapia; Hamid Sadeghian; Raymond H Kim
Journal:  BMC Med Genomics       Date:  2022-07-15       Impact factor: 3.622

2.  Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Authors:  Alistair T Pagnamenta; Pamela J Kaisaki; Fenella Bennett; Emma Burkitt-Wright; Hilary C Martin; Matteo P Ferla; John M Taylor; Lianne Gompertz; Nayana Lahiri; Katrina Tatton-Brown; Ruth Newbury-Ecob; Alex Henderson; Shelagh Joss; Astrid Weber; Jenny Carmichael; Peter D Turnpenny; Shane McKee; Francesca Forzano; Tazeen Ashraf; Kimberley Bradbury; Deborah Shears; Usha Kini; Anna de Burca; Edward Blair; Jenny C Taylor; Helen Stewart
Journal:  Clin Genet       Date:  2019-04-03       Impact factor: 4.438

3.  A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review.

Authors:  Xiu Zhao; Zhuoguang Li; Li Wang; Zhangzhang Lan; Feifei Lin; Wenyong Zhang; Zhe Su
Journal:  BMC Endocr Disord       Date:  2021-01-06       Impact factor: 2.763

4.  Noonan Syndrome in South Africa: Clinical and Molecular Profiles.

Authors:  Cedrik Tekendo-Ngongang; Gloudi Agenbag; Christian Domilongo Bope; Alina Izabela Esterhuizen; Ambroise Wonkam
Journal:  Front Genet       Date:  2019-04-16       Impact factor: 4.599

5.  Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish.

Authors:  Yu Nakagama; Norihiko Takeda; Seishi Ogawa; Hiroyuki Takeda; Yoshiyuki Furutani; Toshio Nakanishi; Tatsuyuki Sato; Yoichiro Hirata; Akira Oka; Ryo Inuzuka
Journal:  Mol Genet Genomic Med       Date:  2019-12-28       Impact factor: 2.183
  5 in total

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