Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum

Laura A. Grutters; Jolien S. Klein Wassink-Ruiter; Trijnie Dijkhuizen; Hessel P. Nijenhuis; Jan D.H. Jongbloed; Johanna C. Herkert

doi:10.1161/CIRCGEN.123.004094

Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum

Laura A. Grutters, Jolien S. Klein Wassink-Ruiter, Trijnie Dijkhuizen, Hessel P. Nijenhuis, Jan D.H. Jongbloed, Johanna C. Herkert^*

^*Corresponding author voor dit werk

Cardiovasculair Centrum

Onderzoeksoutput: Article › Academic › peer review

2 Citaten (Scopus)

145 Downloads (Pure)

Originele taal-2	English
Pagina's (van-tot)	493-495
Aantal pagina's	3
Tijdschrift	Circulation: Genomic and Precision Medicine
Volume	16
Nummer van het tijdschrift	5
DOI's	https://doi.org/10.1161/CIRCGEN.123.004094
Status	Published - okt.-2023

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10.1161/CIRCGEN.123.004094

Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy- Novel Insights Into Phenotypic Presentation and Variant SpectrumFinal publisher's version, 269 KBLicentie: Taverne

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Grutters, L. A., Klein Wassink-Ruiter, J. S., Dijkhuizen, T., Nijenhuis, H. P., Jongbloed, J. D. H., & Herkert, J. C. (2023). Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum. Circulation: Genomic and Precision Medicine, 16(5), 493-495. https://doi.org/10.1161/CIRCGEN.123.004094

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title = "Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum",

keywords = "alpk3 protein, human, chromosome deletion, dilated cardiomyopathy, hypertrophic cardiomyopathy, loss of function mutation, musculoskeletal diseases",

author = "Grutters, \{Laura A.\} and \{Klein Wassink-Ruiter\}, \{Jolien S.\} and Trijnie Dijkhuizen and Nijenhuis, \{Hessel P.\} and Jongbloed, \{Jan D.H.\} and Herkert, \{Johanna C.\}",

year = "2023",

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doi = "10.1161/CIRCGEN.123.004094",

language = "English",

volume = "16",

pages = "493--495",

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Grutters, LA, Klein Wassink-Ruiter, JS, Dijkhuizen, T, Nijenhuis, HP, Jongbloed, JDH & Herkert, JC 2023, 'Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum', Circulation: Genomic and Precision Medicine, vol. 16, nr. 5, blz. 493-495. https://doi.org/10.1161/CIRCGEN.123.004094

Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum. / Grutters, Laura A.; Klein Wassink-Ruiter, Jolien S.; Dijkhuizen, Trijnie et al.
In: Circulation: Genomic and Precision Medicine, Vol. 16, Nr. 5, 10.2023, blz. 493-495.

Onderzoeksoutput: Article › Academic › peer review

TY - JOUR

T1 - Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy

T2 - Novel Insights Into Phenotypic Presentation and Variant Spectrum

AU - Grutters, Laura A.

AU - Klein Wassink-Ruiter, Jolien S.

AU - Dijkhuizen, Trijnie

AU - Nijenhuis, Hessel P.

AU - Jongbloed, Jan D.H.

AU - Herkert, Johanna C.

PY - 2023/10

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KW - alpk3 protein, human

KW - chromosome deletion

KW - dilated cardiomyopathy

KW - hypertrophic cardiomyopathy

KW - loss of function mutation

KW - musculoskeletal diseases

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