A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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2054-345X
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
-
A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay ; volume:6 ; number:1 ; day:23 ; month:5 ; year:2019 ; pages:1-4 ; date:12.2019
Human genome variation ; 6, Heft 1 (23.5.2019), 1-4, 12.2019
- Creator
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Ueno, Yuichi
Enokizono, Takashi
Fukushima, Hiroko
Ohto, Tatsuyuki
Imagawa, Kazuo
Tanaka, Mai
Sakai, Aiko
Suzuki, Hisato
Uehara, Tomoko
Takenouchi, Toshiki
Kosaki, Kenjiro
Takada, Hidetoshi
- Contributor
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SpringerLink (Online service)
- DOI
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10.1038/s41439-019-0056-8
- URN
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urn:nbn:de:101:1-2019110102100316114043
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:30 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Ueno, Yuichi
- Enokizono, Takashi
- Fukushima, Hiroko
- Ohto, Tatsuyuki
- Imagawa, Kazuo
- Tanaka, Mai
- Sakai, Aiko
- Suzuki, Hisato
- Uehara, Tomoko
- Takenouchi, Toshiki
- Kosaki, Kenjiro
- Takada, Hidetoshi
- SpringerLink (Online service)
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Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
Alloparental Support and Infant Psychomotor Developmental Delay
New PTEN mutation identified in a patient with rare bilateral choroidal ganglioneuroma
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)
MRI Evaluation of Global Developmental Delay: A Retrospective Study
Clinical profile of children with developmental delay and microcephaly
Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy
Female developmental environment delays development of male honeybee (Apis mellifera)
Novel SNX13 Frameshift Variant in an Individual with Developmental Delay
Mutation of HERC2 causes developmental delay with Angelman-like features
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
Developmental disorders associated with PTEN gene: case series report
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy
Alloparental Support and Infant Psychomotor Developmental Delay
New PTEN mutation identified in a patient with rare bilateral choroidal ganglioneuroma
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)
MRI Evaluation of Global Developmental Delay: A Retrospective Study
Clinical profile of children with developmental delay and microcephaly
Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy
Female developmental environment delays development of male honeybee (Apis mellifera)
Novel SNX13 Frameshift Variant in an Individual with Developmental Delay