Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2055-8260

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy ; volume:6 ; number:1 ; day:14 ; month:7 ; year:2020 ; pages:1-6 ; date:12.2020
Clinical diabetes and endocrinology ; 6, Heft 1 (14.7.2020), 1-6, 12.2020

Creator: Soyaltin, Utku Erdem
Simsir, Ilgin Yildirim
Akinci, Baris
Altay, Canan
Adiyaman, Suleyman Cem
Lee, Kristen
Onay, Huseyin
Oral, Elif Arioglu

Contributor: SpringerLink (Online service)

DOI: 10.1186/s40842-020-00100-9

URN: urn:nbn:de:101:1-2020091021040281759737

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:56 AM CEST

Data provider

This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.

Show original at data provider

Associated

Soyaltin, Utku Erdem
Simsir, Ilgin Yildirim
Akinci, Baris
Altay, Canan
Adiyaman, Suleyman Cem
Lee, Kristen
Onay, Huseyin
Oral, Elif Arioglu
SpringerLink (Online service)

Other Objects (12)

Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

P02-025 - Homozygous Q705K sequence variant in NLRP3

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

A recurrent homozygous ACTN2 variant associated with core myopathy

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

P02-025 - Homozygous Q705K sequence variant in NLRP3

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

A recurrent homozygous ACTN2 variant associated with core myopathy

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

P02-025 - Homozygous Q705K sequence variant in NLRP3

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

A recurrent homozygous ACTN2 variant associated with core myopathy

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

Cultural heritage institutions wishing to register will find more information here.

Fields marked * need to be filled in.

Username*

Please enter your username

Email*

Please enter your email address

Please do not fill this field

First name

Last name

Password*

Please enter your password

Confirm password*

Please enter the same password

I have read the terms of use and the privacy policy for the collection of personal data and accept them. *

This field is required.

I would like to subscribe to the newsletter of the Deutsche Digitale Bibliothek. See newsletter subscription info.

Account created

Your "My DDB" account has been successfully created. Before you can log in to your account, you must click the confirmation link in the message we just sent to the email address you provided.

Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

P02-025 - Homozygous Q705K sequence variant in NLRP3

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

A recurrent homozygous ACTN2 variant associated with core myopathy

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

P02-025 - Homozygous Q705K sequence variant in NLRP3

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

A recurrent homozygous ACTN2 variant associated with core myopathy

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

Novel homozygous stop-gain pathogenic variant of PPP1R13L gene leads to arrhythmogenic cardiomyopathy

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYBgene: case report

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient

P02-025 - Homozygous Q705K sequence variant in NLRP3

The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalus

A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

A recurrent homozygous ACTN2 variant associated with core myopathy

Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

Related objects

Reset password