In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder
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Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in PIGW. This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting se...
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Full title
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder
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TN_cdi_doaj_primary_oai_doaj_org_article_1c2eb7676e8c4279acfc964b2270ec3c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1c2eb7676e8c4279acfc964b2270ec3c
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ISSN
2218-273X
E-ISSN
2218-273X
DOI
10.3390/biom14121626
