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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2015
Materias:
New Loci
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717446/
https://www.ncbi.nlm.nih.gov/pubmed/26424145
http://dx.doi.org/10.1136/jmedgenet-2015-103344

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717446/
https://www.ncbi.nlm.nih.gov/pubmed/26424145
http://dx.doi.org/10.1136/jmedgenet-2015-103344

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