Vohwinkel syndrome: ichthyosiform variant in a family.
Sign Up to like & getrecommendations! Published in 2018 at "Anais brasileiros de dermatologia"
DOI: 10.1590/abd1806-4841.20187440
Abstract: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and… read more here.
Keywords: palmoplantar; vohwinkel syndrome; family; syndrome ichthyosiform ... See more keywords
Retrospective Diagnosis of a Novel ACAN Pathogenic Variant in a Family With Short Stature: A Case Report and Review of the Literature
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.708864
Abstract: Short stature is a frequent disorder in the pediatric population and can be caused by multiple factors. In the last few years, the introduction of Next Generation Sequencing (NGS) in the molecular diagnostic workflow led… read more here.
Keywords: stature; pathogenic variant; novel acan; short stature ... See more keywords