Pregled bibliografske jedinice broj: 1173123
Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients
Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients // Human genome variation, 8 (2021), 37, 6 doi:10.1038/s41439-021-00169-3 (međunarodna recenzija, članak, stručni)
CROSBI ID: 1173123 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
Naslov
Expanding the known phenotype of Mullegama–Klein–Martinez syndrome in male patients
Autori
Freyberger, Fiona ; Kokotović, Tomislav ; Krnjak, Goran ; Huljev Frković, Sanda ; Nagy, Vanja
Izvornik
Human genome variation (2054-345X) 8
(2021);
37, 6
Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni
Ključne riječi
cohesin ; genomic DNA ; lamotrigine ; stromal antigen 2 ; unclassified drug
Sažetak
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.
Izvorni jezik
Engleski
Znanstvena područja
Kliničke medicinske znanosti
POVEZANOST RADA
Ustanove:
Medicinski fakultet, Zagreb,
Opća bolnica Varaždin,
Klinički bolnički centar Zagreb
Citiraj ovu publikaciju:
Časopis indeksira:
- Web of Science Core Collection (WoSCC)
- Emerging Sources Citation Index (ESCI)
- Scopus
