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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:J Med Genet
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BMJ Publishing Group 2015
विषय:
New Loci
ऑनलाइन पहुंच: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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