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

2026
https://researcherprofiles.org/profile/830281202
42841903
Moussavi-Harami SF, Zinter MS, Motta M, Pannone L, Calligari P, Mignini L, Slavotinek A, Martin PM, Sanchez H, Sanchez L, Ragab I, Abram CL, Broly M, Abi Ayad Y, Serradj A, Boursier G, Bertoli-Avella AM, Sadagopan M, Parvaneh N, Sedighzadeh S, Mirzaei E, Shahrooei M, Hsu AP, Holland SM, Bocchinfuso G, Stella L, Martinelli S, Reversade B, Tartaglia M, Lowell CA, Looney MR, Chan AY