Letter to the Editor From Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia »

Author:

Janot Clément12ORCID,Bachelot Anne34,Mallet Delphine1,Simon Dominique5,Val Pierre6ORCID,Roucher-Boulez Florence127ORCID

Affiliation:

1. Hospices Civils de Lyon, LBMMS, Service de Biochimie et Biologie moléculaire, Centre de Biologie et de Pathologie Est , Bron cedex F-69677 , France

2. Université Claude Bernard Lyon 1, Faculté de Médecine Lyon Est , Lyon F-69008 , France

3. Department of Endocrinology and Reproductive Medicine and Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement, Centre de Référence des Pathologies Gynécologiques Rares, AP-HP, IE3M , Hôpital Pitié-Salpêtrière, 75013 Paris , France

4. Sorbonne Université Médecine , 75006 Paris , France

5. Pediatric Endocrinology department, AP-HP, Hôpital Robert Debré , 75019 Paris , France

6. Institute of Genetics, Reproduction and Development (iGReD), CNRS UMR6293, INSERM 15 U1103, Clermont Auvergne University , Clermont-Ferrand F-63000 , France

7. Stem-Cell and Brain Research Institute (SBRI), Inserm U1208, 18 avenue Doyen-Lépine , 69675 Bron Cedex , France

Publisher

The Endocrine Society

Reference4 articles.

1. Single-exon deletions of ZNRF3 exon 2 cause congenital adrenal hypoplasia;Amano;J Clin Endocrinol Metab,2023

2. News about the genetics of congenital primary adrenal insufficiency;Roucher-Boulez;Ann Endocrinol,2018

3. Loss of LGR4/GPR48 causes severe neonatal salt-wasting due to disrupted WNT signaling altering adrenal zonation;Lucas;J Clin Invest,2022

4. ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling;Harris;Proc Natl Acad Sci U S A,2018

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