A novel single base pair duplication in WDR62 causes primary microcephaly

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A novel single base pair duplication in WDR62 causes primary microcephaly ; volume:15 ; number:1 ; day:11 ; month:10 ; year:2014 ; pages:1-6 ; date:12.2014
BMC medical genetics ; 15, Heft 1 (11.10.2014), 1-6, 12.2014

Creator: Rupp, Verena

Contributor: Rauf, Sobiah
Naveed, Ishrat
Windpassinger, Christian
Mir, Asif
SpringerLink (Online service)

DOI: 10.1186/s12881-014-0107-4

URN: urn:nbn:de:1111-2016081218294

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:44 AM CEST

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Rupp, Verena
Rauf, Sobiah
Naveed, Ishrat
Windpassinger, Christian
Mir, Asif
SpringerLink (Online service)

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A novel single base pair duplication in WDR62 causes primary microcephaly

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Other Objects (12)

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WDR62-deficiency Causes Autism-like Behaviors Independent of Microcephaly in Mice

IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Correction: IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

“Metal-modified base pairs” vs. “metal-mediated pairs of bases”: not just a semantic issue!

Characteristics of children of the Microcephaly Epidemic Research Group Pediatric Cohort who developed postnatal microcephaly

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Biallelic variants in KIF14 cause intellectual disability with microcephaly

WDR62-deficiency Causes Autism-like Behaviors Independent of Microcephaly in Mice

IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Correction: IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

“Metal-modified base pairs” vs. “metal-mediated pairs of bases”: not just a semantic issue!

Characteristics of children of the Microcephaly Epidemic Research Group Pediatric Cohort who developed postnatal microcephaly

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Biallelic variants in KIF14 cause intellectual disability with microcephaly

WDR62-deficiency Causes Autism-like Behaviors Independent of Microcephaly in Mice

IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Correction: IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

“Metal-modified base pairs” vs. “metal-mediated pairs of bases”: not just a semantic issue!

Characteristics of children of the Microcephaly Epidemic Research Group Pediatric Cohort who developed postnatal microcephaly

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

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