Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy.
Paloneva J, Autti T, Hakola P, Haltia MJ.
Paloneva J, et al.
2002 Jan 24 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2002 Jan 24 [updated 2020 Dec 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 20301376
Free Books & Documents.
Review.
If both parents are known to be heterozygous for a TREM2 or TYROBP pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a …
If both parents are known to be heterozygous for a TREM2 or TYROBP pathogenic variant, each sib of an affected individual has at conc …