Work

Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants

Year: 2026

Type: article

Study design: Observational Study

Source: Journal of Medical Genetics

DOI: 10.1136/jmg-2025-111325

Authors: Anna H Hakonen, Susann Karlberg, Kirsi Kiiski, Marita Lipsanen-Nyman, Carola Saloranta, Minna Pekkinen, Saila Laakso, Johanna Lehtonen, Janna Saarela, Anna-Kaisa Anttonen, Eveliina Jakkula, Kristiina Aittomäki, Outi Mäkitie

Institutions: University of Helsinki, Helsinki University Hospital, Hospital District of Helsinki and Uusimaa, Folkhälsans Forskningscentrum, Oslo University Hospital, Institute for Molecular Medicine Finland, HiLIFE – Elämäntieteiden Instituutti, University of Oslo

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Medicinska Understödsföreningen Liv och Hälsa, Stiftelsen Dorothea Olivia, Karl Walter och Jarl Walter Perkléns Minne, Finska Läkaresällskapet, Academy of Finland, Lastentautien Tutkimussäätiö, Sigrid Juséliuksen Säätiö, Barncancerfonden

OpenAlex ID: W7129595283

FWCI:

Cites: 19

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