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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2543454851

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

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Publication information

Publisher

New York: Nature Publishing Group US

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Scope and Contents

Contents

Purpose
To investigate monoallelic
CLPB
variants. Pathogenic variants in many genes cause congenital neutropenia. While most patients exhibit isolated hematological involvement, biallelic
CLPB
variants underlie a neurological phenotype ranging from nonprogressive intellectual disability to prenatal encephalopathy with progressive bra...

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Full title

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

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Record Identifier

TN_cdi_proquest_miscellaneous_2543454851

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2543454851

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/s41436-021-01194-x

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