A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures

Sadamitsu, Kenichiro; Yanagi, Kumiko; Hasegawa, Yuiko; Murakami, Yoshiko; Low, Sean E.; Ooshima, Daikun; Matsubara, Yoichi; Okamoto, Nobuhiko; Kaname, Tadashi; Hirata, Hiromi

doi:10.1038/s10038-024-01264-3

J Hum Genet

2024

DOI: 10.1038/s10038-024-01264-3

|View full text |Cite

A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures

Kenichiro Sadamitsu,

Kumiko Yanagi,

Yuiko Hasegawa

et al.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2024

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature

Hamanaka,

Uchiyama,

Kaname

et al. 2024

The Journal of Pediatrics: Clinical Practice

View full text Add to dashboard Cite

X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature

Hamanaka,

Uchiyama,

Kaname

et al. 2024

The Journal of Pediatrics: Clinical Practice

View full text Add to dashboard Cite

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures

Cited by 1 publication

References 31 publications

X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature

X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature

Contact Info

Product

Resources

About