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

BACKGROUND: Noonan syndrome is an inherited disease involving multiple systems. More than 15 related genes have been discovered, among which LZTR1 was discovered recently. However, the pathogenesis and inheritance pattern of LZTR1 in Noonan syndrome have not yet been elucidated. CASE PRESENTATION: W...

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Detalles Bibliográficos
Autores principales: Zhao, Xiu, Li, Zhuoguang, Wang, Li, Lan, Zhangzhang, Lin, Feifei, Zhang, Wenyong, Su, Zhe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788825/
https://www.ncbi.nlm.nih.gov/pubmed/33407364
http://dx.doi.org/10.1186/s12902-020-00666-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788825/
https://www.ncbi.nlm.nih.gov/pubmed/33407364
http://dx.doi.org/10.1186/s12902-020-00666-6

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