Browsing Centre for Tumour Biology by Author "Jackson, AP"
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ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Handley, MT; Reddy, K; Wills, J; Rosser, E; Kamath, A; Halachev, M; Falkous, G; Williams, D; Cox, P; Meynert, A (2019-03)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 ...