Extending the phenotype of midface toddler excoriation syndrome (MiTES): Five new cases in three families with PR domain containing protein 12 (PRDM12) mutations-Reference-Cited by-同舟云学术

Extending the phenotype of midface toddler excoriation syndrome (MiTES): Five new cases in three families with PR domain containing protein 12 (PRDM12) mutations

Published:2019-12 Issue:6 Volume:81 Page:1415-1417
ISSN:0190-9622
Container-title:Journal of the American Academy of Dermatology
language:en
Short-container-title:Journal of the American Academy of Dermatology

Author:

Inamadar Arun C.,Vinay Keshavmurthy,Olabi Bayanne,Sarveswaran Nivedita,Bishnoi Anuradha,Woods Christopher G.,Moss Celia

Funder

Biotechnology and Biological Sciences Research Council

Publisher

Elsevier BV

Subject

Dermatology

Reference5 articles.

1. Mid-face toddler excoriation syndrome (MiTES): a new paediatric diagnosis;Srinivas;Clin Exp Dermatol,2017

2. Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12;Moss;Br J Dermatol,2018

3. Transcriptional regulator PRDM12 is essential for human pain perception;Chen;Nat Genet,2015

4. Neuropathic itch;Oaklander;Semin Cutan Med Surg,2011

5. Molecular pathology of polyalanine expansion disorders: new perspectives from mouse models;Hughes,2013

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1. Midfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism;British Journal of Dermatology;2024-04-09

2. Neurological Conditions Affecting the Skin;Rook's Textbook of Dermatology;2024-03-19

3. Genetic pain loss disorders;Nature Reviews Disease Primers;2022-06-16

4. PRDM12 in Health and Diseases;International Journal of Molecular Sciences;2021-11-06

5. Vertebrate Sensory Ganglia: Common and Divergent Features of the Transcriptional Programs Generating Their Functional Specialization;Frontiers in Cell and Developmental Biology;2020-10-26