Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant

Affiliations

¹ Department of Pediatrics, Osaka Medical and Pharmaceutical University, Osaka, Japan.
² Department of Thoracic and Cardiovascular Surgery, Osaka Medical and Pharmaceutical University, Osaka, Japan.
³ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Yutaka Odanaka et al. Pediatr Int. 2022 Jan.

. 2022 Jan;64(1):e15031.

doi: 10.1111/ped.15031.

¹ Department of Pediatrics, Osaka Medical and Pharmaceutical University, Osaka, Japan.
² Department of Thoracic and Cardiovascular Surgery, Osaka Medical and Pharmaceutical University, Osaka, Japan.
³ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

No abstract available

Keywords: Cornelia de Lange; SMC1A; congenital heart diseases; dilated cardiomyopathy; pulmonary atresia with ventricular septal defect.

References

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