Excluding Digenic Inheritance of <i>PGAP2</i> and <i>PGAP3</i> Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with <i>PGAP2</i> Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)

Excluding Digenic Inheritance of <i>PGAP2</i> and <i>PGAP3</i> Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with <i>PGAP2</i> Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)

We present a case report of a child with features of hyperphosphatasia with neurologic deficit (HPMRS) or Mabry syndrome (MIM 239300) with variants of unknown significance in two post-GPI attachments to proteins genes, <i>PGAP2</i> and <i>PGAP3</i>, that underlie HPMRS 3 and...

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Bibliographic Details
Main Authors: Miles D. Thompson, Xueying Li, Michele Spencer-Manzon, Danielle M. Andrade, Yoshiko Murakami, Taroh Kinoshita, Thomas O. Carpenter
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
developmental disability
glycosylphosphatidylinositol (GPI) disorder
Mabry syndrome
hyperphosphatasia with mental retardation (HPMRS)
exome panel sequencing
post attachment to proteins
Online Access:https://www.mdpi.com/2073-4425/14/2/359

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https://www.mdpi.com/2073-4425/14/2/359

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