Could a shared intronic variant hold the key? Unraveling retinopathy and motor dysfunction in two individuals with variants of unknown significance in the FDXR gene

Janni Majgaard Jensen; Helle L.  Johnsen; lars kjaersgaard hansen; Else Gade; Mie Larsen; Caroline Hey Bækgaard; Kristina Sørensen; Elsebet Østergaard; Christina Fagerberg

Could a shared intronic variant hold the key? Unraveling retinopathy and motor dysfunction in two individuals with variants of unknown significance in the FDXR gene

Janni Majgaard Jensen
, Helle L. Johnsen
, lars kjaersgaard hansen
, Else Gade
, Mie Larsen
, Caroline Hey Bækgaard
, Kristina Sørensen
, Elsebet Østergaard
, Christina Fagerberg

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning

Originalsprog	Engelsk
Artikelnummer	P08.044.A
Tidsskrift	European Journal of Human Genetics
Vol/bind	32
Udgave nummer	Suppl. 2
Sider (fra-til)	1421-1422
Antal sider	2
ISSN	1018-4813
Status	Udgivet - 6 dec. 2024
Begivenhed	57th European Society of Human Genetics (ESHG) Conference - Messe Berlin, CityCube, Berlin, Tyskland Varighed: 1 jun. 2024 → 4 jun. 2024 https://2024.eshg.org/

Konference

Konference	57th European Society of Human Genetics (ESHG) Conference
Lokation	Messe Berlin, CityCube
Land/Område	Tyskland
By	Berlin
Periode	01/06/2024 → 04/06/2024
Internetadresse	https://2024.eshg.org/

Bibliografisk note

Abstrakt No. P08.044.A

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Citationsformater

Jensen, J. M., Johnsen, H. L., kjaersgaard hansen, L., Gade, E., Larsen, M., Hey Bækgaard, C., Sørensen, K., Østergaard, E., & Fagerberg, C. (2024). Could a shared intronic variant hold the key? Unraveling retinopathy and motor dysfunction in two individuals with variants of unknown significance in the FDXR gene. European Journal of Human Genetics, 32(Suppl. 2), 1421-1422. Artikel P08.044.A.

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title = "Could a shared intronic variant hold the key? Unraveling retinopathy and motor dysfunction in two individuals with variants of unknown significance in the FDXR gene",

author = "Jensen, \{Janni Majgaard\} and Johnsen, \{Helle L.\} and \{kjaersgaard hansen\}, lars and Else Gade and Mie Larsen and \{Hey B{\ae}kgaard\}, Caroline and Kristina S{\o}rensen and Elsebet {\O}stergaard and Christina Fagerberg",

note = "Abstract No. P08.044.A; 57th European Society of Human Genetics (ESHG) Conference ; Conference date: 01-06-2024 Through 04-06-2024",

year = "2024",

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language = "English",

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Jensen, JM , Johnsen, HL, kjaersgaard hansen, L, Gade, E, Larsen, M, Hey Bækgaard, C, Sørensen, K, Østergaard, E & Fagerberg, C 2024, 'Could a shared intronic variant hold the key? Unraveling retinopathy and motor dysfunction in two individuals with variants of unknown significance in the FDXR gene', European Journal of Human Genetics, bind 32, nr. Suppl. 2, P08.044.A, s. 1421-1422.

Could a shared intronic variant hold the key? Unraveling retinopathy and motor dysfunction in two individuals with variants of unknown significance in the FDXR gene. / Jensen, Janni Majgaard ; Johnsen, Helle L.; kjaersgaard hansen, lars et al.
I: European Journal of Human Genetics, Bind 32, Nr. Suppl. 2, P08.044.A, 06.12.2024, s. 1421-1422.

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning

TY - ABST

T1 - Could a shared intronic variant hold the key? Unraveling retinopathy and motor dysfunction in two individuals with variants of unknown significance in the FDXR gene

AU - Jensen, Janni Majgaard

AU - Johnsen, Helle L.

AU - kjaersgaard hansen, lars

AU - Gade, Else

AU - Larsen, Mie

AU - Hey Bækgaard, Caroline

AU - Sørensen, Kristina

AU - Østergaard, Elsebet

AU - Fagerberg, Christina

N1 - Abstract No. P08.044.A

PY - 2024/12/6

Y1 - 2024/12/6

UR - https://doi.org/10.1038/s41431-024-01734-4

M3 - Conference abstract in journal

SN - 1018-4813

VL - 32

SP - 1421

EP - 1422

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - Suppl. 2

M1 - P08.044.A

T2 - 57th European Society of Human Genetics (ESHG) Conference

Y2 - 1 June 2024 through 4 June 2024

ER -