Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions-Reference-Cited by-同舟云学术

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Published:2018-11-26 Issue:1 Volume:51 Page:96-105
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Heyn Patricia,Logan Clare V.,Fluteau Adeline,Challis Rachel C.^ORCID,Auchynnikava Tatsiana,Martin Carol-Anne,Marsh Joseph A.^ORCID,Taglini Francesca,Kilanowski Fiona,Parry David A.^ORCID,Cormier-Daire Valerie,Fong Chin-To,Gibson Kate,Hwa Vivian^ORCID,Ibáñez Lourdes,Robertson Stephen P.^ORCID,Sebastiani Giorgia,Rappsilber Juri,Allshire Robin C.^ORCID,Reijns Martin A. M.^ORCID,Dauber Andrew^ORCID,Sproul Duncan^ORCID,Jackson Andrew P.^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/s41588-018-0274-x.pdf

Reference74 articles.

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2. Bicknell, L. S. et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat. Genet. 43, 356–359 (2011).

3. Bicknell, L. S. et al. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat. Genet. 43, 350–355 (2011).

4. Guernsey, D. L. et al. Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. Nat. Genet. 43, 360–364 (2011).

5. Burrage, L. C. et al. De novo GMNN mutations cause autosomal-dominant primordial dwarfism associated with Meier-Gorlin syndrome. Am. J. Hum. Genet. 97, 904–913 (2015).

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