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A novel heterozygou...
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
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- Thuresson, Ann-Charlotte (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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Croft, Brittany (author)
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- Hailer, Yasmin D., 1972- (author)
- Uppsala universitet,Ortopedi och Handkirurgi
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- Liminga, Gunnar (author)
- Uppsala universitet,Institutionen för kvinnors och barns hälsa
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Arvidsson, Carl-Göran (author)
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Harley, Vincent R (author)
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- Stattin, Evalena (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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(creator_code:org_t)
- 2021-01-13
- 2021
- English.
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In: Clinical Genetics. - : John Wiley & Sons. - 0009-9163 .- 1399-0004. ; 99:2, s. 325-329
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Abstract
Subject headings
Close
- Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.566C>G, p.(Pro189Arg) in FGF9. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding. We also review the findings of cases reported previously and report on additional features not described previously.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- FGF9
- Multiple synostosis syndrome
- SYNS
- fusion of interphalangeal joints
Publication and Content Type
- ref (subject category)
- art (subject category)
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