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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Spremljeno u:
Bibliografski detalji
Izdano u:Orphanet J Rare Dis
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2016
Teme:
Letter to the Editor
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5041579/
https://ncbi.nlm.nih.gov/pubmed/27683084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0509-9
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