Review began 07/03/2022 review ended 09/14/2022 published 09/21/2022 © copyright

HIGHLIGHTS

• who: Report et al. from the (UNIVERSITY) have published the Article: Review began 07/03/2022 Review ended 09/14/2022 Published 09/21/2022 u00a9 Copyright, in the Journal: (JOURNAL) of September/21,/2022
• what: The authors report a novel homozygous missense mutation of the PGAP3 gene associated with an unusual clinical presentation of HPMRS4.

SUMMARY

Mutation of PGAP3 gene is associated with the phenotype hyperphosphatasia with mental retardation syndrome type 4 (HRMRS4) (MIM # 615716) and was first identified and reported in 2014. The authors present a novel homozygous missense . . .

 



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