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1. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Authors: Saskia B Wortmann; Szymon Ziętkiewicz; Maria Kousi; Radek Szklarczyk; Tobias B Haack; Søren W Gersting; Ania C Muntau; Aleksandar Rakovic; G Herma Renkema; Richard J Rodenburg; Tim M Strom; Thomas Meitinger; M Estela Rubio-Gozalbo; Elzbieta Chrusciel; Felix Distelmaier; Christelle Golzio; Joop H Jansen; Clara van Karnebeek; Yolanda Lillquist; Thomas Lücke; Katrin Õunap; Riina Zordania; Joy Yaplito-Lee; Hans van Bokhoven; Johannes N Spelbrink; Frédéric M Vaz; Mia Pras-Raves; Rafal Ploski; Ewa Pronicka; Christine Klein; Michel A A P Willemsen; Arjan P M de Brouwer; Holger Prokisch; Nicholas Katsanis; Ron A Wevers
Journal: Am J Hum Genet Date: 2015-01-15 Impact factor: 11.025

Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation.

1. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

Review 2. Congenital neutropenia: diagnosis, molecular bases and patient management.

Review 3. Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).

4. A zebrafish model for HAX1-associated congenital neutropenia.