Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

BACKGROUND: Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant limitations in intellectual functioning and adaptive behaviour. The identificati...

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Vydáno v:BMC Med Genet
Hlavní autoři: Ilyas, Muhammad, Efthymiou, Stephanie, Salpietro, Vincenzo, Noureen, Nuzhat, Zafar, Faisal, Rauf, Sobiah, Mir, Asif, Houlden, Henry
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7092478/
https://ncbi.nlm.nih.gov/pubmed/32209057
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-00998-z
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