Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 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, PGAP2 and PGAP3, that underlie HPMRS 3 and 4. Background: In addition to HPMRS 3...

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Detalles Bibliográficos
Autores principales: Thompson, Miles D., Li, Xueying, Spencer-Manzon, Michele, Andrade, Danielle M., Murakami, Yoshiko, Kinoshita, Taroh, Carpenter, Thomas O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957281/
https://www.ncbi.nlm.nih.gov/pubmed/36833286
http://dx.doi.org/10.3390/genes14020359

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