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Journal of Medical Genetics|March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.Proceedings of the National Academy of Sciences of the United States of America|September 17, 2004
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient miceMark Veugelers, David Wilkes, Kimberly Burton, et al.Journal of the American Academy of Dermatology|March 14, 2020
The Alopecia Areata Consensus of Experts (ACE) study: Results of an international expert opinion on treatments for alopecia areataNekma Meah, Dmitri Wall, Katherine York, et al.Journal of the American Academy of Dermatology|September 14, 2020
The Alopecia Areata Consensus of Experts (ACE) study part II: Results of an international expert opinion on diagnosis and laboratory evaluation for alopecia areataNekma Meah, Dmitri Wall, Katherine York, et al.Nature Genetics|January 6, 2009
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosisYaran Wen, Yang Liu, Yiming Xu, et al.Nature Genetics|June 4, 2013
High-density genotyping study identifies four new susceptibility loci for atopic dermatitisDavid Ellinghaus, Hansjörg Baurecht, Jorge Esparza-Gordillo, et al.Nature|August 11, 2015
Mutations in DCHS1 cause mitral valve prolapseRonen Durst, Kimberly Sauls, David S Peal, et al.Orphanet Journal of Rare Diseases|October 17, 2015
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutationsSandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, et al.Human Mutation|September 17, 2013
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformationNicole Revencu, Laurence M Boon, Antonella Mendola, et al.The British Journal of Dermatology|October 17, 2015
Propranolol in the treatment of infantile haemangiomas: lessons from the European Propranolol In the Treatment of Complicated Haemangiomas (PITCH) Taskforce surveyE Wedgeworth, M Glover, A D Irvine, et al.Pageof 58