Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients

Here, we report a novel case of a male patient with a hemizygous missense variant in STAG2 (p.Tyr159His) resulting in Mullegama–Klein–Martinez syndrome (MKMS), a rare X-linked cohesinopathy. He shares distinct clinical features with a previously reported male patient carrying the STAG2 variant p.Tyr...

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Detalles Bibliográficos
Autores principales: Freyberger, Fiona, Kokotović, Tomislav, Krnjak, Goran, Frković, Sanda Huljev, Nagy, Vanja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8476567/
https://www.ncbi.nlm.nih.gov/pubmed/34580287
http://dx.doi.org/10.1038/s41439-021-00169-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8476567/
https://www.ncbi.nlm.nih.gov/pubmed/34580287
http://dx.doi.org/10.1038/s41439-021-00169-3

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