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Pregled bibliografske jedinice broj: 937557

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


Sakaguchi, Tomohiro; Žigman, Tamara; Petković Ramadža, Danijela; Omerza, Lana; Pušeljić, Silvija; Ereš Hrvaćanin, Zrinka; Miyake, Noriko; Matsumoto, Naomichi; Barić, Ivo
A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum. // Human genome variation, 5 (2018), 18005, 4 doi:10.1038/hgv.2018.5 (međunarodna recenzija, prikaz, stručni)


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

Autori
Sakaguchi, Tomohiro ; Žigman, Tamara ; Petković Ramadža, Danijela ; Omerza, Lana ; Pušeljić, Silvija ; Ereš Hrvaćanin, Zrinka ; Miyake, Noriko ; Matsumoto, Naomichi ; Barić, Ivo

Izvornik
Human genome variation (2054-345X) 5 (2018); 18005, 4

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, prikaz, stručni

Ključne riječi
PGAP3 mutation ; brachytelephalangy ; corpus callosum

Sažetak
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 PGAP3mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Ustanove
Medicinski fakultet, Zagreb,
Klinički bolnički centar Osijek,
Opća bolnica "Dr. Josip Benčević",
Klinički bolnički centar Zagreb,
Medicinski fakultet, Osijek

Uključenost u ostale bibliografske baze podataka:


  • MEDLINE


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