Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia

BACKGROUND & OBJECTIVES: ATRX is a recessive X-linked intellectual deficiency (X-LID) gene causing predominately alpha-thalassaemia with a wide and clinically heterogeneous spectrum of intellectual deficiency syndromes. Although alpha-thalassaemia is commonly present, some patients do not expres...

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Detalles Bibliográficos
Autores principales: Bouazzi, Habib, Thakur, Seema, Trujillo, Carlos, Alwasiyah, Mohammad Khalid, Munnich, Arnold
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822368/
https://www.ncbi.nlm.nih.gov/pubmed/26997013
http://dx.doi.org/10.4103/0971-5916.178589

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822368/
https://www.ncbi.nlm.nih.gov/pubmed/26997013
http://dx.doi.org/10.4103/0971-5916.178589

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