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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Materias: | |
| 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 |