Congenital hypogonadotropic hypogonadism with anosmia and Gorlin features caused by a PTCH1 mutation reveals a new candidate gene for Kallmann syndrome.

Sara Barraud; Brigitte Delemer; Céline Poirsier-Violle; Jérôme Bouligand; Jean-Claude Mérol; Florent Grange; Brigitte Higel-Chaufour; Bénédicte Decoudier; Mohamad Zalzali; Andrew Dwyer; James Acierno; Nelly Pitteloud; Robert Millar; Jacques Young

doi:10.1159/000506640

Journal articles

Congenital hypogonadotropic hypogonadism with anosmia and Gorlin features caused by a PTCH1 mutation reveals a new candidate gene for Kallmann syndrome.

Sara Barraud ¹ Brigitte Delemer ² Céline Poirsier-Violle Jérôme Bouligand ³ Jean-Claude Mérol ⁴ Florent Grange ⁵ Brigitte Higel-Chaufour Bénédicte Decoudier Mohamad Zalzali Andrew Dwyer James Acierno Nelly Pitteloud ⁶ Robert Millar Jacques Young ³

1 URCA - Université de Reims Champagne-Ardenne

2 Service d'Endocrinologie - Diabète - Nutrition [Reims]

3 Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique

4 P3CELL - Pathologies Pulmonaires et Plasticité Cellulaire - UMR-S 1250

5 CHU Reims - Centre Hospitalier Universitaire de Reims

6 CHUV - Centre Hospitalier Universitaire Vaudois [Lausanne]

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Human health and pathology / Endocrinology and metabolism

Life Sciences [q-bio] / Genetics / Human genetics

Complete list of metadatas

https://hal.univ-reims.fr/hal-02566662
Contributor : Sara Barraud <>
Submitted on : Thursday, May 7, 2020 - 11:19:55 AM
Last modification on : Wednesday, September 16, 2020 - 5:03:35 PM

Congenital hypogonadotropic hypogonadism with anosmia and Gorlin features caused by a PTCH1 mutation reveals a new candidate gene for Kallmann syndrome.

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Congenital hypogonadotropic hypogonadism with anosmia and Gorlin features caused by a PTCH1 mutation reveals a new candidate gene for Kallmann syndrome.

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