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When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

Published Online: 2021-05-05

Published Print: 2021-12

Authors

Hureaux, Marguerite https://orcid.org/0000-0002-6444-2911
Chantot-Bastaraud, Sandra

Cassinari, Kévin

Martinez Casado, Edouard

Cuny, Ariane

Frébourg, Thierry

Vargas-Poussou, Rosa

Bréhin, Anne-Claire
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Text and Data Mining valid from 2021-05-05

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Article History

Received: 15 February 2021

Accepted: 4 April 2021

First Online: 5 May 2021

Declarations

:

: The authors confirm that the study conforms to recognized standards of European Medicines Agency Guidelines for Good Clinical Practice and has been performed in accordance with local ethical approvals.

: Written consent for publication of images and clinical information was obtained from both parents.

: The authors declare no conflict of interest.

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