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Article

Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD).

The Turkish journal of pediatrics - 1 Jan 2017

El-Bouchikhi Ihssane, Belhassan Khadija, Moufid Fatima Zohra, Houssaini Mohammed Iraqui, Ouldim Karim, Atmani Samir

Abstract excerpt

Atrioventricular septal defect is a complex congenital heart defects (CHD) with a prevalence of approximately 4% of all CHDs. Transitional form of atrio-ventricular septal defect (tAVSD) associates ostium primum atrial septal defect, common atrioventricular annulus with distinct atrioventricular valvar orifices in addition of restrictive ventricular septal defect. We describe in this report clinical and molecular...

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Identifiers

PMID: 29745128
DOI: 10.24953/turkjped.2017.05.019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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