Genetic and rare skin diseases.

TopicLeading institutions, researchers & key papers

Genetic and rare skin diseases. is a topic indexed in ScholarIQ from OpenAlex.

What is known about Genetic and rare skin diseases.?

ScholarIQrecord summary

This cluster of papers focuses on genomic rearrangement disorders in skin diseases, particularly related to mutations in NEMO, ATP2C1, and other genes affecting NF-?B activation and calcium pump function. It covers a wide range of conditions such as incontinentia pigmenti, Hailey-Hailey disease, epidermal nevus syndromes, and Darier disease, providing insights into the molecular basis, clinical manifestations, and potential therapeutic targets for these disorders.

How many works does Genetic and rare skin diseases. have?

ScholarIQindexed works

Genetic and rare skin diseases. has 41 works in the ScholarIQ index. The count is the OpenAlex total, not the number of papers listed on this page.

See the works listed for Genetic and rare skin diseases. →

What is the OpenAlex record for Genetic and rare skin diseases.?

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What are the most-cited papers on Genetic and rare skin diseases.?

ScholarIQmost cited works

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

James T. Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E. Timms, Dana M. Jensen, Sarah Collins, Małgorzata J.M. Nowaczyk, Marjorie J. Lindhurst, Katherine Christensen, Stephen R. Braddock, Heather A. Brandling‐Bennett, Raoul C. M. Hennekam, Brian Hon‐Yin Chung, Anna Lehman, John Su, SuYuen Ng, David J. Amor, Jacek Majewski, Les Biesecker, Kym M. Boycott, William B. Dobyns, Mark O’Driscoll, Ute Moog, Laura M. McDonell

The American Journal of Human Genetics. 2016110 CitationsOPEN ACCESS

Histopathology of skin lesions in renal allograft recipients—an assessment of viral features and dysplasia

Karen Blessing, K M McLaren, E. C. Benton, Bryce Barr, Mary H. Bunney, I. W. Smith, G. W. Beveridge

Histopathology. 198982 Citations

Orbital Dermoids in Children

Rakesh Ahuja, Nathalie F. Azar

Seminars in Ophthalmology. 200668 Citations

Darier disease: A rare genodermatosis

Hema Suryawanshi, Akshay Dhobley, Aparna Sharma, Pramod Kumar

Journal of Oral and Maxillofacial Pathology. 201751 Citations

Three novel mutations in the <i>PORCN</i> gene underlying focal dermal hypoplasia

P Leoyklang, Kanya Suphapeetiporn, Siriwan Wananukul, Vorasuk Shotelersuk