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Article

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

Clinical endocrinology - 1 Nov 2017

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

Abstract excerpt

OBJECTIVE: 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. DESIGN: We performed a whole-exome sequencing of two 46,XY female individuals. Sanger sequencing was used to validate the most likely...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28708305
DOI: 10.1111/cen.13420

Genes

DHH
BOC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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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.PMID 28708305Read ↗

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