Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the 5 patients also had postnatal growth retardation. The associati...

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Bibliographic Details
Main Authors:	Cottineau, J, Kottemann, M, Lach, F, Kang, Y, Vély, F, Deenick, E, Lazarov, T, Gineau, L, Wang, Y, Farina, A, Chansel, M, Lorenzo, L, Piperoglou, C, Ma, C, Nitschke, P, Belkadi, A, Itan, Y, Boisson, B, Jabot-Hanin, F, Picard, C, Bustamante, J, Eidenschenk, C, Boucherit, S, Aladjidi, N, Lacombe, D, Barat, P, Qasim, W, Hurst, J, Pollard, A, Uhlig, H, Fieschi, C, Michon, J, Bermudez, V, Abel, L, de Villartay, J, Geissmann, F, Tangye, S, Hurwitz, J, Vivier, E, Casanova, J, Smogorzewska, A, Jouanguy, E
Format:	Journal article
Language:	English
Published:	American Society for Clinical Investigation 2017

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

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