ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy

Typical Martsolf syndrome is characterized by congenital cataracts, postnatal microcephaly, developmental delay, hypotonia, short stature and biallelic hypomorphic mutations in either RAB3GAP1 or RAB3GAP2. Genetic analysis of 85 unrelated “mutation negative” probands with Martsolf or Martsolf-like s...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:PLoS Genet
Päätekijät: Handley, Mark T., Reddy, Kaalak, Wills, Jimi, Rosser, Elisabeth, Kamath, Archith, Halachev, Mihail, Falkous, Gavin, Williams, Denise, Cox, Phillip, Meynert, Alison, Raymond, Eleanor S., Morrison, Harris, Brown, Stephen, Allan, Emma, Aligianis, Irene, Jackson, Andrew P., Ramsahoye, Bernard H., von Kriegsheim, Alex, Taylor, Robert W., Finch, Andrew J., FitzPatrick, David R.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2019
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6428344/
https://ncbi.nlm.nih.gov/pubmed/30856165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007605
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