Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12-Reference-Cited by-同舟云学术

Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12

Published:2018-09-16 Issue:5 Volume:179 Page:1135-1140
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Moss C.¹²^ORCID,Srinivas S.M.³,Sarveswaran N.⁴,Nahorski M.⁴,Gowda V.K.⁵,Browne F.M.⁶,Woods G.⁴⁷^ORCID

Affiliation:

1. Birmingham Women's and Children's Hospital; Birmingham U.K.

2. University of Birmingham; Birmingham U.K.

3. Department of Pediatric Dermatology; Indira Gandhi Institute of Child Health; Bangalore Karnataka India

4. Cambridge Institute for Medical Research; University of Cambridge; Cambridge U.K.

5. Department of Pediatric Neurology; Indira Gandhi Institute of Child Health; Bangalore Karnataka India

6. Department of Dermatology; Our Lady's Children's Hospital; Crumlin, Dublin Ireland

7. Department of Medical Genetics; University of Cambridge; Cambridge U.K.

Funder

Wellcome Trust

Biotechnology and Biological Sciences Research Council

National Institute for Health Research

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.16893/fullpdf

Reference7 articles.

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

2. Watson R Proceedings of the Royal Academy of Medicine in Ireland Dermatology Meeting 2014

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

4. Mid-face toddler excoriation syndrome (MiTES): three new cases from two unrelated families;Srinivas;Br J Dermatol,2017

5. A de novo gain-of-function mutation in SCN11A causes loss of pain perception;Leipold;Nat Genet,2013

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1. Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand;Journal of Neuromuscular Diseases;2024-01-02

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3. Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review;Frontiers in Genetics;2023-03-20

4. Midface Toddler Excoriation Syndrome – A Tale of Scarring Excoriation of the Face;Indian Journal of Paediatric Dermatology;2023

5. Prdm12, a key transcriptional regulator of the nociceptive lineage;The Neurobiology, Physiology, and Psychology of Pain;2022