A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

We describe a pedigree presenting X-linked severe mental retardation associated with multiple congenital abnormalities and 46,XY gonadal dysgenesis, leading in one family member to female gender assignment. Female carriers are unaffected. The dysmorphic features are similar to those described in the...

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Bibliografski detalji
Glavni autori: Ion, A., Telvi, L., Chaussain, J. L., Galacteros, F., Valayer, J., Fellous, M., McElreavey, K.
Format: Artigo
Jezik:Inglês
Izdano: 1996
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915046/
https://ncbi.nlm.nih.gov/pubmed/8651295
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