A Novel RUNX1 Genetic Variant Identified in a Young Male with Severe Osteoporosis

ABSTRACT This case describes a young man with an unusual cause of severe osteoporosis and markedly deranged bone microarchitecture resulting in multiple fractures. A potentially pathogenic germline variant in the runt‐related transcription factor 1 (RUNX1) gene was discovered by a focused 51‐gene my...

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Номзүйн дэлгэрэнгүй

Үндсэн зохиолчид:	Tomasz J. Block, Cat Shore‐Lorenti, Roger Zebaze, Peter G. Kerr, Anna Kalff, Andrew Charles Perkins, Peter R. Ebeling, Frances Milat
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Oxford University Press 2023-09-01
Цуврал:	JBMR Plus
Нөхцлүүд:	ANABOLIC THERAPY IDIOPATHIC OSTEOPOROSIS OSTEOGENESIS OSTEOPOROSIS IN YOUNG ADULTS RUNX1 GENETIC VARIANT
Онлайн хандалт:	https://doi.org/10.1002/jbm4.10791
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!