Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum

to related objects

Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1750-1172

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum ; volume:16 ; number:1 ; day:30 ; month:6 ; year:2021 ; pages:1-10 ; date:12.2021
Orphanet journal of rare diseases ; 16, Heft 1 (30.6.2021), 1-10, 12.2021

Creator: Mendoza-Caamal, Elvia C.
Barajas-Olmos, Francisco
Mirzaeicheshmeh, Elaheh
Ilizaliturri-Flores, Ian
Aguilar-Salinas, Carlos A.
Gómez-Velasco, Donaji V.
Cicerón-Arellano, Isabel
Reséndiz-Rodríguez, Adriana
Martínez-Hernández, Angélica
Contreras-Cubas, Cecilia
Islas-Andrade, Sergio
Zerrweck, Carlos
García-Ortiz, Humberto
Orozco, Lorena

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13023-021-01924-z

URN: urn:nbn:de:101:1-2021101221243738718260

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

Last update: 15.08.2025, 7:23 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

Mendoza-Caamal, Elvia C.
Barajas-Olmos, Francisco
Mirzaeicheshmeh, Elaheh
Ilizaliturri-Flores, Ian
Aguilar-Salinas, Carlos A.
Gómez-Velasco, Donaji V.
Cicerón-Arellano, Isabel
Reséndiz-Rodríguez, Adriana
Martínez-Hernández, Angélica
Contreras-Cubas, Cecilia
Islas-Andrade, Sergio
Zerrweck, Carlos
García-Ortiz, Humberto
Orozco, Lorena
SpringerLink (Online service)

Other Objects (12)

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Functional characterization of two DYRK1B variants causative of AOMS3

A novel FUS::BEND2 fusion expanding the molecular spectrum of astroblastomas

COG5-CDG: expanding the clinical spectrum

P02-009 - Candle syndrome: expanding spectrum

Novel potential causative genes in carotid paragangliomas

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Functional characterization of two DYRK1B variants causative of AOMS3

A novel FUS::BEND2 fusion expanding the molecular spectrum of astroblastomas

COG5-CDG: expanding the clinical spectrum

P02-009 - Candle syndrome: expanding spectrum

Novel potential causative genes in carotid paragangliomas

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Functional characterization of two DYRK1B variants causative of AOMS3

A novel FUS::BEND2 fusion expanding the molecular spectrum of astroblastomas

COG5-CDG: expanding the clinical spectrum

P02-009 - Candle syndrome: expanding spectrum

Novel potential causative genes in carotid paragangliomas

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.

Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum

Object Details

References and Relationships

Contributors, Places and Time

Further information

Data provider

Associated

Other Objects (12)

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Functional characterization of two DYRK1B variants causative of AOMS3

A novel FUS::BEND2 fusion expanding the molecular spectrum of astroblastomas

COG5-CDG: expanding the clinical spectrum

P02-009 - Candle syndrome: expanding spectrum

Novel potential causative genes in carotid paragangliomas

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Functional characterization of two DYRK1B variants causative of AOMS3

A novel FUS::BEND2 fusion expanding the molecular spectrum of astroblastomas

COG5-CDG: expanding the clinical spectrum

P02-009 - Candle syndrome: expanding spectrum

Novel potential causative genes in carotid paragangliomas

Novel biallelic variant in BBS9 causative of Bardet–Biedl syndrome: expanding the spectrum of disease-causing genetic alterations

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Functional characterization of two DYRK1B variants causative of AOMS3

A novel FUS::BEND2 fusion expanding the molecular spectrum of astroblastomas

COG5-CDG: expanding the clinical spectrum

P02-009 - Candle syndrome: expanding spectrum

Novel potential causative genes in carotid paragangliomas

Related objects

Reset password