Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies

BACKGROUND: SHOX mutations have previously been described as causes of Léri-Weill dyschondrosteosis (LWD), Langer mesomelic dysplasia (LMD), and idiopathic short stature. The loss of X chromosome—Turner syndrome or mosaic 45,X/46,XX or 46,XY—also leads to the heterozygous loss of SHOX in patients wi...

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Detalles Bibliográficos
Autores principales: Capkova, Pavlina, Capkova, Zuzana, Rohon, Peter, Adamová, Katerina, Zapletalova, Jirina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PeerJ Inc. 2020
Materias:
Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678493/
https://www.ncbi.nlm.nih.gov/pubmed/33240610
http://dx.doi.org/10.7717/peerj.10236

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678493/
https://www.ncbi.nlm.nih.gov/pubmed/33240610
http://dx.doi.org/10.7717/peerj.10236

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