SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

We examined an extended, consanguineous family with seven individuals with severe intellectual disability and microcephaly. Further symptoms were hearing loss, vision impairment, gastrointestinal disturbances, and slow and asymmetric waves in the EEG. Linkage analysis followed by exome sequencing re...

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Detalles Bibliográficos
Autores principales: Buchert, Rebecca, Nesbitt, Addie I., Tawamie, Hasan, Krantz, Ian D., Medne, Livija, Helbig, Ingo, Matalon, Dena R., Reis, André, Santani, Avni, Sticht, Heinrich, Abou Jamra, Rami
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041579/
https://www.ncbi.nlm.nih.gov/pubmed/27683084
http://dx.doi.org/10.1186/s13023-016-0509-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5041579/
https://www.ncbi.nlm.nih.gov/pubmed/27683084
http://dx.doi.org/10.1186/s13023-016-0509-9

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