Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

Summary: Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical genetic testing in whom long-read sequencing identified causal variants,...

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Үндсэн зохиолчид:	Monica H. Wojcik, Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson, Linda Golkar, Miranda P.G. Zalusky, Angela L. Miller, Araceli Rodriguez, Joy Goffena, Camille A. Dash, Nikhita Damaraju, Sophia B. Gibson, Sophie H.R. Storz, Zachary B. Anderson, Jonas A. Gustafson, Isabelle Thiffault, Emily G. Farrow, Tomi Pastinen, Jasmine Lin, Jennifer T. Huang, Alan H. Beggs, Pankaj B. Agrawal, David T. Miller, Danny E. Miller
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Elsevier 2025-07-01
Цуврал:	HGG Advances
Нөхцлүүд:	incontinentia pigmenti IKBKG long-read sequencing pseudogene structural variation methylation
Онлайн хандалт:	http://www.sciencedirect.com/science/article/pii/S2666247725000715
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!