HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

BACKGROUND: The genetic aetiology of neurodevelopmental defects is extremely diverse, and the lack of distinctive phenotypic features means that genetic criteria are often required for accurate diagnostic classification. We aimed to identify the causative genetic lesions in two families in which eig...

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Vydáno v:J Med Genet
Hlavní autoři: Hollstein, Ronja, Parry, David A, Nalbach, Lisa, Logan, Clare V, Strom, Tim M, Hartill, Verity L, Carr, Ian M, Korenke, Georg C, Uppal, Sandeep, Ahmed, Mushtaq, Wieland, Thomas, Markham, Alexander F, Bennett, Christopher P, Gillessen-Kaesbach, Gabriele, Sheridan, Eamonn G, Kaiser, Frank J, Bonthron, David T
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4717446/
https://ncbi.nlm.nih.gov/pubmed/26424145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103344
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