Chediak-Higashi syndrome: pathognomonic feature

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Chediak-Higashi syndrome: pathognomonic feature

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1449281829

Chediak-Higashi syndrome: pathognomonic feature

About this item

Full title

Chediak-Higashi syndrome: pathognomonic feature

Author / Creator

Antunes, Henedina, Prof , Pereira, Ângela, MD and Cunha, Isabel, MD

Publisher

England: Elsevier Ltd

Journal title

The Lancet (British edition), 2013-11, Vol.382 (9903), p.1514-1514

Language

English

Formats

Articles

Publication information

Publisher

England: Elsevier Ltd

Subjects

Subjects and topics

More information

Scope and Contents

Contents

The blood smear showed giant lysosomes in the white blood cells (figure) and we diagnosed Chediak-Higashi syndrome, a rare autosomal recessive disease (gene CHS1/LYST at 1q42.1-2).

Alternative Titles

Full title

Chediak-Higashi syndrome: pathognomonic feature

Authors, Artists and Contributors

Author / Creator

Antunes, Henedina, Prof
Pereira, Ângela, MD
Cunha, Isabel, MD

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1449281829

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1449281829

Other Identifiers

ISSN

0140-6736

E-ISSN

1474-547X

DOI

10.1016/S0140-6736(13)60020-3

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