A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum

Sakaguchi, Tomohiro and Žigman, Tamara and Petković Ramadža, Danijela and Omerza, Lana and Pušeljić, Silvija and Ereš Hrvaćanin, Zrinka and Miyake, Noriko and Matsumoto, Naomichi and Barić, Ivo (2018) A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum. Human Genome Variation, 5. ISSN 2054-345X

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Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features.

Item Type: Article
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Departments: Katedra za pedijatriju
Depositing User: Kristina Berketa
Status: Published
Sakaguchi, TomohiroUNSPECIFIED
Petković Ramadža, DanijelaUNSPECIFIED
Pušeljić, SilvijaUNSPECIFIED
Ereš Hrvaćanin, ZrinkaUNSPECIFIED
Matsumoto, NaomichiUNSPECIFIED
Date: 8 March 2018
Date Deposited: 18 Sep 2019 11:08
Last Modified: 18 Sep 2019 11:08
Subjects: /
Related URLs:
URI: http://medlib.mef.hr/id/eprint/3377

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