A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations

Françoise Paris; Delphine Flatters; Sandrine Caburet; Bérangère Legois; Nadège Servant; Hervé Lefebvre; Charles Sultan; Reiner Veitia

doi:10.1111/cen.13420

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A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations

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A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations

Françoise Paris, Delphine Flatters, Sandrine Caburet, Bérangère Legois, Nadège Servant, Hervé Lefebvre, Charles Sultan et Reiner Veitia

Clinical endocrinology (Oxford), Vol.87(5), pp.539-544

11/2017

DOI: https://doi.org/10.1111/cen.13420

PMID: 28708305

Résumé

Endocrinology and metabolism

Human health and pathology

Life Sciences

Disorders of sex development (DSD) are a heterogeneous group of conditions affecting the differentiation and development of the internal and external genitalia. Here, we aimed at identifying the genetic cause of DSD in two 46,XY sisters from a consanguineous family.

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Détails

Titre: A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations
Créateurs - sans rôle: Françoise Paris - Centre Hospitalier Régional Universitaire [Montpellier]
Delphine Flatters - Molécules Thérapeutiques in silico
Sandrine Caburet - Institut Jacques Monod
Bérangère Legois - Institut Jacques Monod
Nadège Servant - Centre Hospitalier Régional Universitaire [Montpellier]
Hervé Lefebvre - Différenciation et Communication Neuronale et Neuroendocrine
Charles Sultan - Centre Hospitalier Régional Universitaire [Montpellier]
Reiner Veitia - Institut Jacques Monod
Détails de publication: Clinical endocrinology (Oxford), Vol.87(5), pp.539-544
Éditeur: Wiley
Nombre de pages: 6
Identifiants: 99136579509311
Unité académique: Développement Embryonnaire, Fertilité et Environnement - DEFE
Langue: English
Type de ressource: Journal article