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Author

M. Motta

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Open access Oct 2026

Biallelic loss-of-function PTPN6 variants lead to inflammatory lung disease and hemolytic anemia

Moussavi-Harami et al. report that biallelic loss-of-function variants in PTPN6, encoding the immune-regulatory phosphatase SHP1, cause anemia and fatal lung hyperinflammation in families from diverse ethnic backgrounds.

S. Moussavi-Harami, M. Zinter, M. Motta et al. · 0 citations
Jun 2026

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Evidence is provided that biallelic GIT1 variants affecting transcript processing or causing premature termination underlie a syndromic neurodevelopmental disorder and an essential role for GIT1 in development and cognitive function is established.

P. Failla, V. Muto, Antonella Lauri et al. · 0 citations

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