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A Novel Pathogenic Variant in PAX2-Related Renal Coloboma Syndrome Identified by Prenatal Diagnosis: A Case Report and Literature Review

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Bibliographic Details
Published in:Case Reports in Obstetrics and Gynecology
Format: Online Article RSS Article
Published: 2026
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container_title Case Reports in Obstetrics and Gynecology
description
discipline_display Nurses and Nursing
discipline_facet Nurses and Nursing
format Online Article
RSS Article
genre Journal Article
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institution FRELIP
journal_source_facet Case Reports in Obstetrics and Gynecology
last_indexed 2026-07-08T03:39:51.104Z
publishDate 2026
publishDateSort 2026
record_format rss_article
spellingShingle A Novel Pathogenic Variant in PAX2-Related Renal Coloboma Syndrome Identified by Prenatal Diagnosis: A Case Report and Literature Review
Nurses and Nursing
General
Nurses and Nursing
sub_discipline_display General
sub_discipline_facet General
subject_display Nurses and Nursing
General
Nurses and Nursing
subject_facet Nurses and Nursing
General
Nurses and Nursing
title A Novel Pathogenic Variant in PAX2-Related Renal Coloboma Syndrome Identified by Prenatal Diagnosis: A Case Report and Literature Review
title_alt Una nueva variante patogénica en el síndrome de coloboma renal relacionado con PAX2 identificada por diagnóstico prenatal: reporte de un caso y revisión de la literatura
Un nouveau variant pathogène dans le syndrome de colobome rénal lié à PAX2 identifié par diagnostic prénatal : rapport de cas et revue de la littérature
Uma nova variante patogênica na síndrome de coloboma renal relacionada a PAX2 identificada por diagnóstico pré-natal: relato de caso e revisão da literatura
title_auth A Novel Pathogenic Variant in PAX2-Related Renal Coloboma Syndrome Identified by Prenatal Diagnosis: A Case Report and Literature Review
title_es_txt Una nueva variante patogénica en el síndrome de coloboma renal relacionado con PAX2 identificada por diagnóstico prenatal: reporte de un caso y revisión de la literatura
title_fr_txt Un nouveau variant pathogène dans le syndrome de colobome rénal lié à PAX2 identifié par diagnostic prénatal : rapport de cas et revue de la littérature
title_full A Novel Pathogenic Variant in PAX2-Related Renal Coloboma Syndrome Identified by Prenatal Diagnosis: A Case Report and Literature Review
title_fullStr A Novel Pathogenic Variant in PAX2-Related Renal Coloboma Syndrome Identified by Prenatal Diagnosis: A Case Report and Literature Review
title_full_unstemmed A Novel Pathogenic Variant in PAX2-Related Renal Coloboma Syndrome Identified by Prenatal Diagnosis: A Case Report and Literature Review
title_pt_txt Uma nova variante patogênica na síndrome de coloboma renal relacionada a PAX2 identificada por diagnóstico pré-natal: relato de caso e revisão da literatura
title_short A Novel Pathogenic Variant in PAX2-Related Renal Coloboma Syndrome Identified by Prenatal Diagnosis: A Case Report and Literature Review
title_sort a novel pathogenic variant in pax2-related renal coloboma syndrome identified by prenatal diagnosis: a case report and literature review
topic Nurses and Nursing
General
Nurses and Nursing
url https://www.hindawi.com/journals/criog/2026/5112963/