Articles with "trichorhinophalangeal syndrome" as a keyword



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The diagnostic utility of trichorhinophalangeal syndrome type 1 immunohistochemistry for metastatic breast carcinoma in effusion cytology specimens

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Published in 2022 at "Cancer Cytopathology"

DOI: 10.1002/cncy.22663

Abstract: Trichorhinophalangeal syndrome type 1 (TRPS1) is a novel immunohistochemical marker with excellent performance in distinguishing breast carcinoma from other cancers in surgical specimens. The aim of this study was to evaluate the diagnostic utility of… read more here.

Keywords: syndrome type; trichorhinophalangeal syndrome; breast carcinoma; cytology ... See more keywords

Trichorhinophalangeal syndrome type II associated with aplasia cutis congenita in a neonate

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Published in 2022 at "Pediatric Dermatology"

DOI: 10.1111/pde.14934

Abstract: Aplasia cutis congenita (ACC) was diagnosed in a newborn with dysmorphic facial features, oligodactyly of the bilateral feet, and hip instability. The neonate's clinical abnormalities in addition to genetic testing confirmed a diagnosis of trichorhinophalangeal… read more here.

Keywords: trichorhinophalangeal syndrome; cutis congenita; type; aplasia cutis ... See more keywords