Associated Papers
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly LA et al.
Human Molecular Genetics, 2015
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Philips AK et al.
Orphanet Journal of Rare Diseases, 2014
[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].
Arvio M et al.
Duodecim; Laaketieteellinen Aikakauskirja, 2014
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.
Huang L et al.
American Journal of Human Genetics, 2012
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