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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)


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

Citiraj ovu publikaciju

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)
Sakaguchi, T., Žigman, T., Petković Ramadža, D., Omerza, L., Pušeljić, S., Ereš Hrvaćanin, Z., Miyake, N., Matsumoto, N. & Barić, I. (2018) A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.. Human genome variation, 5, 18005, 4 doi:10.1038/hgv.2018.5.
@article{article, year = {2018}, pages = {4}, DOI = {10.1038/hgv.2018.5}, chapter = {18005}, keywords = {PGAP3 mutation, brachytelephalangy, corpus callosum}, journal = {Human genome variation}, doi = {10.1038/hgv.2018.5}, volume = {5}, issn = {2054-345X}, title = {A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.}, keyword = {PGAP3 mutation, brachytelephalangy, corpus callosum}, chapternumber = {18005} }
@article{article, year = {2018}, pages = {4}, DOI = {10.1038/hgv.2018.5}, chapter = {18005}, keywords = {PGAP3 mutation, brachytelephalangy, corpus callosum}, journal = {Human genome variation}, doi = {10.1038/hgv.2018.5}, volume = {5}, issn = {2054-345X}, title = {A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.}, keyword = {PGAP3 mutation, brachytelephalangy, corpus callosum}, chapternumber = {18005} }

Uključenost u ostale bibliografske baze podataka:


  • MEDLINE


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