Pregled bibliografske jedinice broj: 937557
A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum
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)
CROSBI ID: 937557 Za ispravke kontaktirajte CROSBI podršku putem web obrasca
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
Profili:
Tamara Žigman
(autor)
Silvija Pušeljić
(autor)
Lana Omerza
(autor)
Ivo Barić
(autor)
Danijela Petković-Ramadža
(autor)
Citiraj ovu publikaciju:
Uključenost u ostale bibliografske baze podataka::
- MEDLINE
