首页> Frontiers in pediatrics> Case Report: A new patient expanding the clinical spectrum of <i>DOHH</i>-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability.

Case Report: A new patient expanding the clinical spectrum of <i>DOHH</i>-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability.

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第一作者： Elise,Daire

第一单位： Pediatric Cardiology Department, Amiens University Hospital, Amiens, France.;EA4666 Hematim, University of Picardie-Jules Verne, Amiens, France.

作者： Elise,Daire ^[1] ; Sabine,Dirani ^[2] ; Karine,Braun ^[3] ; Segolene,Delmas Lanta ^[4] ; Hélène,Cavé ^[5] ; Adeline Alice,Bonnard ^[5] ; Benedicte,Demeer ^[6]

作者单位： Pediatric Cardiology Department, Amiens University Hospital, Amiens, France.;EA4666 Hematim, University of Picardie-Jules Verne, Amiens, France. ^[1] Pediatric Cardiology Department, Amiens University Hospital, Amiens, France. ^[2] Department of Pediatrics, Amiens University Hospital, Amiens, France. ^[3] Department of Obstetrics, Gynaecology and Reproductive Medicine, Amiens University Hospital, Amiens, France. ^[4] Service de Génétique du Développement, Hôpital Robert Debré, AP-HP, Paris, France.;Université Paris Cité, Paris, France. ^[5] Genetic Department, CLAD, Amiens University Hospital, Amiens, France.;Chimere INSERM UA21, University of Picardie-Jules Verne, Institut Faire Face, Amiens, France. ^[6]

关键词 DOHH cardiomyopathy hypocalcemia increased nuchal translucency neurodevelopmental disorders

DOI 10.3389/fped.2026.1733592

PMID 42327909

发布时间 2026-06-22

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Case Report: A new patient expanding the clinical spectrum of <i>DOHH</i>-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability.

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Case Report: A new patient expanding the clinical spectrum of <i>DOHH</i>-associated syndrome with increased nuchal translucency, cardiomyopathy, hypoparathyroidism and mild intellectual disability.

Frontiers in pediatrics

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