Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?

Our study aims to delineate the syndromology of Hunter syndrome (MPSII), by presenting three patients with different clinical courses, caused by different genetic mechanisms. Single-nucleotide variants (SNV) or small deletions encompassing the iduronate-2-sulfatase (IDS) gene are identified in the m...

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Detalles Bibliográficos
Autores principales: Jezela-Stanek, Aleksandra, Pokora, Paulina, Młynek, Marlena, Smyk, Marta, Ziemkiewicz, Kamila, Różdżyńska-Świątkowska, Agnieszka, Tylki-Szymańska, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8868176/
https://www.ncbi.nlm.nih.gov/pubmed/33290290
http://dx.doi.org/10.1097/MCD.0000000000000344

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8868176/
https://www.ncbi.nlm.nih.gov/pubmed/33290290
http://dx.doi.org/10.1097/MCD.0000000000000344

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