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

Research output: Contribution to journal › Conference abstract in journal › Research

Original language	English
Article number	P08.044.A
Journal	European Journal of Human Genetics
Volume	32
Issue number	Suppl. 2
Pages (from-to)	1421-1422
Number of pages	2
ISSN	1018-4813
Publication status	Published - 6 Dec 2024
Event	57th European Society of Human Genetics (ESHG) Conference - Messe Berlin, CityCube, Berlin, Germany Duration: 1 Jun 2024 → 4 Jun 2024 https://2024.eshg.org/

Conference

Conference	57th European Society of Human Genetics (ESHG) Conference
Location	Messe Berlin, CityCube
Country/Territory	Germany
City	Berlin
Period	01/06/2024 → 04/06/2024
Internet address	https://2024.eshg.org/

Bibliographical note

Abstract No. P08.044.A

AUB Link

Search for the material in Aalborg University Library's search engine

Cite this

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. Article P08.044.A.

@article{60839519aab54e2fa98bee8b21489562,

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",

month = dec,

day = "6",

language = "English",

volume = "32",

pages = "1421--1422",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer",

number = "Suppl. 2",

url = "https://2024.eshg.org/",

}

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, vol. 32, no. Suppl. 2, P08.044.A, pp. 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.
In: European Journal of Human Genetics, Vol. 32, No. Suppl. 2, P08.044.A, 06.12.2024, p. 1421-1422.

Research output: Contribution to journal › Conference abstract in journal › Research

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 -

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

Conference

Bibliographical note

AUB Link

Other files and links

Cite this