Geroderma osteodysplasticum: Histological features and the role of panel-based exome sequencing in diagnosis.

Ultrastruct Pathol 2018 Mar-Apr;42(2):91-96. Epub 2018 Feb 9.

a Yorkshire Regional Genetics Service , Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust , Leeds , UK.

Geroderma osteodysplasticum (GO) has clinical and histological features that overlap with other causes of wrinkly skin. Here we present the case of a child diagnosed with GO following exome sequencing of a panel of genes covering the wide differential diagnosis. The histological features of the overlapping conditions are presented, highlighting the utility of panel testing for conditions of this type. This is relevant to many genetic conditions and can influence ongoing management as exemplified by this case.

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http://dx.doi.org/10.1080/01913123.2018.1427166DOI Listing
August 2018

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