Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1472-6823

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation ; volume:22 ; number:1 ; day:14 ; month:3 ; year:2022 ; pages:1-8 ; date:12.2022
BMC endocrine disorders ; 22, Heft 1 (14.3.2022), 1-8, 12.2022

Creator: Welsch, Christoph
Flügel, Anna Katharina
Rondot, Susanne
Schulze, Egbert
Sircar, Ishani
Nußbaumer, Judith
Bojunga, Jörg

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12902-022-00978-9

URN: urn:nbn:de:101:1-2022060701264717216681

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

Last update: 15.08.2025, 7:26 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

Welsch, Christoph
Flügel, Anna Katharina
Rondot, Susanne
Schulze, Egbert
Sircar, Ishani
Nußbaumer, Judith
Bojunga, Jörg
SpringerLink (Online service)

Other Objects (12)

FMCGP: frameshift mutation cartesian genetic programming

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

Phenotypes of a family with XLH with a novel PHEX mutation

Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review

A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

FMCGP: frameshift mutation cartesian genetic programming

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

Phenotypes of a family with XLH with a novel PHEX mutation

Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review

A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

FMCGP: frameshift mutation cartesian genetic programming

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

Phenotypes of a family with XLH with a novel PHEX mutation

Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review

A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

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.

Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

FMCGP: frameshift mutation cartesian genetic programming

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

Phenotypes of a family with XLH with a novel PHEX mutation

Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review

A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

FMCGP: frameshift mutation cartesian genetic programming

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

Phenotypes of a family with XLH with a novel PHEX mutation

Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review

A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

FMCGP: frameshift mutation cartesian genetic programming

A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family

A novel elastin gene frameshift mutation in a Russian family with cutis laxa: a case report

Phenotypes of a family with XLH with a novel PHEX mutation

Characterization of clinical phenotypes in congenital myasthenic syndrome associated with the c.1327delg frameshift mutation in chrne encoding the acetylcholine receptor epsilon subunit

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Muir-Torre-Syndrom mit bisher nicht beschriebener Frameshift-Mutation im MSH2-Gen

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia

A novel frameshift GRN mutation results in frontotemporal lobar degeneration with a distinct clinical phenotype in two siblings: case report and literature review

A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle

A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis

Related objects

Reset password