Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients
| العنوان: | Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients |
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| المؤلفون: | Goran Krnjak, Vanja Nagy, Sanda Huljev Frković, Fiona Freyberger, Tomislav Kokotović |
| المصدر: | Human Genome Variation Human Genome Variation, Vol 8, Iss 1, Pp 1-6 (2021) |
| بيانات النشر: | Springer Science and Business Media LLC, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Genetics, business.industry, Neurodevelopmental disorders, QH426-470, Biochemistry, Phenotype, Life, Male patient, QH501-531, cohesin, genomic DNA, lamotrigine, stromal antigen 2, unclassified drug, Mutation (genetic algorithm), Data Report, Medicine, Missense mutation, business, Clinical phenotype, Molecular Biology, Neurological disorders, Rare disease |
| الوصف: | 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.Tyr159Cys, suggesting that this phenotype is determined by the position of the mutation. Additionally, our patient exhibits symptoms not previously associated with MKMS, expanding the known clinical phenotype of this rare disease. |
| تدمد: | 2054-345X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1ce9310be90e52f3e793cdf3df2045d https://doi.org/10.1038/s41439-021-00169-3 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....e1ce9310be90e52f3e793cdf3df2045d |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 2054345X |
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