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

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 Marts...

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Bibliographic Details
Main Authors: Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev, Gavin Falkous, Denise Williams, Phillip Cox, Alison Meynert, Eleanor S Raymond, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis, Andrew P Jackson, Bernard H Ramsahoye, Alex von Kriegsheim, Robert W Taylor, Andrew J Finch, David R FitzPatrick
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-03-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1007605

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https://doi.org/10.1371/journal.pgen.1007605

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