Extending the phenotype of midface toddler excoriation syndrome (MiTES): Five new cases in three families with PR domain containing protein 12 (PRDM12) mutations - 09/11/19
Doi : 10.1016/j.jaad.2019.05.036
Arun C. Inamadar, FRCP a, Keshavmurthy Vinay, MRCP b, Bayanne Olabi, MRCP c, Nivedita Sarveswaran, MSc d, Anuradha Bishnoi, MD b, Christopher G. Woods, PhD d, e, Celia Moss, FRCP f, g, ⁎ 
a Department of Dermatology, Shri BM Patil Medical College & Hospital, BLDE (Deemed to be University), Bijapur, India
b Department of Dermatology, Post Graduate Institute of Medical Education & Research, Chandigarh, India
c Department of Dermatology, Edinburgh Royal Infirmary, United Kingdom
d Cambridge Institute for Medical Research, United Kingdom
e Department of Medical Genetics, University of Cambridge, United Kingdom
f Department of Dermatology, Birmingham Children's Hospital, United Kingdom
g College of Medical and Dental Sciences, University of Birmingham, United Kingdom
∗Reprint requests: Celia Moss, FRCP, Department of Dermatology, Birmingham Children's Hospital, Steelhouse Ln, Birmingham B4 6NH, UKDepartment of DermatologyBirmingham Children's HospitalSteelhouse LnBirminghamB4 6NHUK
| Prior presentation: Patients 1 and 2 were presented by Prof Inamadar at the 31st Annual Society for Pediatric Dermatology Pre-AAD meeting, Washington, DC, February 28-March 1, 2019. Patient 5 was presented by Dr Olabi at the British Society for Paediatric Dermatology Annual Meeting, Glasgow, Scotland, November 9-10, 2018. |
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| Funding: Supported by Biotechnology and Biological Sciences Research Council CASE studentship Ref BB/N504142/1 to Nivedita Sarveswaran and by National Institute of Health Biomedical Centre award to Cambridge 2017-2022, Integrated genomics theme, ref RG85443 to Dr Woods. |
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| Conflicts of interest: None disclosed. |
© 2019
American Academy of Dermatology, Inc.. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 81 - N° 6
P. 1415-1417 - décembre 2019 Retour au numéro
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