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Clinical Genetics|April 16, 2020
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complicationsAlison Foster, Basile Chalot, Thalia Antoniadi, et al.
The British Journal of Dermatology|June 9, 2023
British Society for Paediatric and Adolescent Dermatology assessment and support of mental health in children and young people with skin conditions: a multidisciplinary expert consensus statement and recommendationsTess McPherson, Jane Ravenscroft, Rukshana Ali, et al.
The Journal of Experimental Medicine|July 9, 2026
ADAR1 loss-of-function variants altering RNA editing define a new interferon-dependent psoriasis subtypeFlorence Assan, Margot Tragin, Sahiti Marella, et al.
American Journal of Human Genetics|March 10, 2005
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosisDavid P Kelsell, Elizabeth E Norgett, Harriet Unsworth, et al.
The FEBS Journal|November 27, 2015
Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndromeYveline Hamon, Monika Legowska, Patricia Fergelot, et al.
The Journal of Clinical Investigation|February 21, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapyLara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
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