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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Veröffentlicht in:Orphanet J Rare Dis
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: BioMed Central 2016
Schlagworte:
Letter to the Editor
Online Zugang: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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