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Pregled bibliografske jedinice broj: 1191548

Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review


Huljev Frković, Sanda; Vičić, Ana; Crkvenac Gornik, Kristina; Kulišić, Dinko; Stipoljev, Feodora
Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review // The American Journal of Medical Genetics - Part A, Online ahead of print (2022), 1-5 doi:10.1002/ajmg.a.62684 (međunarodna recenzija, prikaz, znanstveni)


CROSBI ID: 1191548 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review

Autori
Huljev Frković, Sanda ; Vičić, Ana ; Crkvenac Gornik, Kristina ; Kulišić, Dinko ; Stipoljev, Feodora

Izvornik
The American Journal of Medical Genetics - Part A (1552-4825) Online ahead of print (2022); 1-5

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

Ključne riječi
Orofaciodigital syndrome type IV ; TCTN3 ; ciliopathy ; occipital encephalocele ; polydactyly ; prenatal

Sažetak
Primary cilia are a component of almost all vertebrate cells with a crucial role in sensing and transducing environmental signals during tissue development. Their dysfunction is known as ciliopathies and can manifest with a wide spectrum of clinical disorders. Overlapping features and molecular heterogeneity of ciliopathies make diagnoses distinctly challenging. In this group of diseases, tectonic genes, and their mutations play an important role. We present a first-trimester fetus with occipital encephalocele and OFD type IV caused by TCTN3 compound heterozygous pathogenic variants: c.1423_1429del (p.Arg475Serfs*10) and c.3G>A (initiator codon). A severe arm anomaly was described in our case, with two fingers along the atrophic forearm and polydactyly on other limbs. This could be a new phenotypic characteristic contributing to further understanding of TCTN3- related disorders as well as other tectonic proteins in ciliopathy spectrum diseases.

Izvorni jezik
Engleski

Znanstvena područja
Interdisciplinarne prirodne znanosti, Temeljne medicinske znanosti



POVEZANOST RADA


Ustanove:
Klinička bolnica "Sveti Duh",
Klinički bolnički centar Zagreb,
Zdravstveno veleučilište, Zagreb,
Medicinski fakultet, Osijek,
Opća bolnica Zadar

Poveznice na cjeloviti tekst rada:

doi onlinelibrary.wiley.com

Citiraj ovu publikaciju:

Huljev Frković, Sanda; Vičić, Ana; Crkvenac Gornik, Kristina; Kulišić, Dinko; Stipoljev, Feodora
Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review // The American Journal of Medical Genetics - Part A, Online ahead of print (2022), 1-5 doi:10.1002/ajmg.a.62684 (međunarodna recenzija, prikaz, znanstveni)
Huljev Frković, S., Vičić, A., Crkvenac Gornik, K., Kulišić, D. & Stipoljev, F. (2022) Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review. The American Journal of Medical Genetics - Part A, Online ahead of print, 1-5 doi:10.1002/ajmg.a.62684.
@article{article, author = {Huljev Frkovi\'{c}, Sanda and Vi\v{c}i\'{c}, Ana and Crkvenac Gornik, Kristina and Kuli\v{s}i\'{c}, Dinko and Stipoljev, Feodora}, year = {2022}, pages = {1-5}, DOI = {10.1002/ajmg.a.62684}, keywords = {Orofaciodigital syndrome type IV, TCTN3, ciliopathy, occipital encephalocele, polydactyly, prenatal}, journal = {The American Journal of Medical Genetics - Part A}, doi = {10.1002/ajmg.a.62684}, volume = {Online ahead of print}, issn = {1552-4825}, title = {Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review}, keyword = {Orofaciodigital syndrome type IV, TCTN3, ciliopathy, occipital encephalocele, polydactyly, prenatal} }
@article{article, author = {Huljev Frkovi\'{c}, Sanda and Vi\v{c}i\'{c}, Ana and Crkvenac Gornik, Kristina and Kuli\v{s}i\'{c}, Dinko and Stipoljev, Feodora}, year = {2022}, pages = {1-5}, DOI = {10.1002/ajmg.a.62684}, keywords = {Orofaciodigital syndrome type IV, TCTN3, ciliopathy, occipital encephalocele, polydactyly, prenatal}, journal = {The American Journal of Medical Genetics - Part A}, doi = {10.1002/ajmg.a.62684}, volume = {Online ahead of print}, issn = {1552-4825}, title = {Prenatally detected encephalocele associated with a novel pathogenic TCTN3 variant: A case report and literature review}, keyword = {Orofaciodigital syndrome type IV, TCTN3, ciliopathy, occipital encephalocele, polydactyly, prenatal} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


Citati:





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