Prenatally detected encephalocele associated with a novel pathogenic <scp> <i>TCTN3</i> </scp> variant: A case report and literature review-Reference-Cited by-同舟云学术

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

Published:2022-02-15 Issue:6 Volume:188 Page:1826-1830
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Huljev Frković Sanda¹^ORCID,Vičić Ana²³^ORCID,Crkvenac Gornik Kristina⁴,Kulišić Dinko⁵,Stipoljev Feodora²⁶

Affiliation:

1. Department of Paediatrics, Division for genetics and metabolism, University of Zagreb School of Medicine University Hospital Centre Zagreb Zagreb Croatia

2. Cytogenetic Laboratory, Department of Obstetrics and Gynecology Clinical Hospital “Sveti Duh” Zagreb Croatia

3. University of Applied Health Sciences Zagreb Croatia

4. Department of Laboratory Diagnostics, Division of Cytogenetics University Hospital Centre Zagreb Zagreb Croatia

5. Department of Gynecology and Obstetrics General Hospital Zadar Zadar Croatia

6. Faculty of Medicine Josip Juraj Strossmayer University of Osijek Osijek Croatia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62684

Reference17 articles.

1. Lost in translation: Bioinformatic analysis of variations affecting the translation initiation codon in the human genome;Abad‐Navarro F.;Bioinformatics,2018

2. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

3. Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders

4. Open sesame: How transition fibers and the transition zone control ciliary composition;Garcia‐Gonzales F. R.;Cold Spring Harbor Perspectives in Biology,2017

5. Tectonic Proteins Are Important Players in Non-Motile Ciliopathies

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