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10 Citations

3,766 Views

14 Pages

Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders

Miles D. Thompson and
Alexej Knaus

Genes2024, 15(5), 619;https://doi.org/10.3390/genes15050619

14 May 2024

The case report by Mabry et al. (1970) of a family with four children with elevated tissue non-specific alkaline phosphatase, seizures and profound developmental disability, became the basis for phenotyping children with the features that became know...

(This article belongs to the Special Issue Human Developmental Disability, Neurogenetics and Rare Diseases: From Basic Science to Genetic Counseling)

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2 Citations

3,277 Views

28 Pages

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder

Agnese Feresin,
Mathilde Lefebvre,
Emilie Sjøstrøm,
Caterina Zanus and ,
Elisa Paccagnella,
Irene Bruno,
Erica Valencic,
Anna Morgan,
Alberto Tommasini and
Luciana Musante
+ 8 authors+ 3 authors

Biomolecules2024, 14(12), 1626;https://doi.org/10.3390/biom14121626

18 December 2024

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 onl...

(This article belongs to the Special Issue New Insight into the Molecular Genetics of Neurodevelopmental Disorders)

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