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Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

Saskia B. Wortmann, Szymon Ziętkiewicz, Sergio Guerrero‐Castillo, René G. Feichtinger, Matias Wagner, Jacqui Russell, Carolyn Ellaway, Dagmara Mróz, Hubert Wyszkowski, Denisa Weis, Iris Hannibal, Celina von Stülpnagel, Alfredo Cabrera‐Orefice, Uta Lichter‐Konecki, Jenna Gaesser, Randy M. Windreich, Kasiani C. Myers, Robert B. Lorsbach, Russell C. Dale, Søren W. Gersting, Carlos E. Prada, John Christodoulou, Nicole I. Wolf, Hanka Venselaar, Johannes A. Mayr, Ron A. Wevers

2021Genetics in Medicine38 citationsDOIOpen Access PDF

Topics & Concepts

CLPBBiologyPhenotypeGeneticsGeneMutantBlood disorders and treatmentsGenomics and Rare DiseasesBiochemical and Molecular Research
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency | Litcius