Article

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

2018-08-02

Abstract excerpt

Martsolf syndrome is characterized by congenital cataracts, postnatal microcephaly, developmental delay, hypotonia, short stature and biallelic hypomorphic mutations in either RAB3GAP1 or RAB3GAP2. Through genetic analysis of 85 unrelated “mutation negative” probands referred with Martsolf syndrome we identified two individuals with different homozygous null mutations in ITPA , the gene encoding inosine triphos...

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Literature Corpus work: 2ca0cbea-7c81-5f1f-a6af-6b03834fd0a0
DOI: 10.1101/383612

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