Expanding PIGM-related disorders to coding mutations

Romain Nicolle; Laura Russell; Véronique Abadie; Patrick Nitschke; Christine Bole; Simon Pierre Guay; Thi Tuyet Mai Nguyen; Stéphanie Leclerc-Mercier; Stanislas Lyonnet; Julie Steffann; Philippe M. Campeau; Jacob Mashiah; Christine Bodemer; Smail Hadj-Rabia; Jeanne Amiel

doi:10.1111/jdv.20578

Expanding PIGM-related disorders to coding mutations

Romain Nicolle
, Laura Russell
, Véronique Abadie
, Patrick Nitschke
, Christine Bole
, Simon Pierre Guay
, Thi Tuyet Mai Nguyen
, Stéphanie Leclerc-Mercier
, Stanislas Lyonnet
, Julie Steffann
, Philippe M. Campeau
, Jacob Mashiah
, Christine Bodemer
, Smail Hadj-Rabia^*
, Jeanne Amiel

^*Corresponding author for this work

Dermatology

Laboratory of embryology and genetics of human malformations
Université Paris Cité
McGill University
Université de Sherbrooke
University of Montreal
Tel Aviv Sourasky Medical Center

Research output: Contribution to journal › Letter › peer-review

1 Scopus citations

Original language	English
Pages (from-to)	e841-e844
Journal	Journal of the European Academy of Dermatology and Venereology
Volume	39
Issue number	10
DOIs	https://doi.org/10.1111/jdv.20578
State	Published - Oct 2025

Funding

Funders
MSDAVENIR
Philanthropy Department of Mutuelles AXA

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10.1111/jdv.20578

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Nicolle, R., Russell, L., Abadie, V., Nitschke, P., Bole, C., Guay, S. P., Nguyen, T. T. M., Leclerc-Mercier, S., Lyonnet, S., Steffann, J., Campeau, P. M., Mashiah, J., Bodemer, C., Hadj-Rabia, S., & Amiel, J. (2025). Expanding PIGM-related disorders to coding mutations. Journal of the European Academy of Dermatology and Venereology, 39(10), e841-e844. https://doi.org/10.1111/jdv.20578

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year = "2025",

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Nicolle, R, Russell, L, Abadie, V, Nitschke, P, Bole, C, Guay, SP, Nguyen, TTM, Leclerc-Mercier, S, Lyonnet, S, Steffann, J, Campeau, PM, Mashiah, J, Bodemer, C, Hadj-Rabia, S & Amiel, J 2025, 'Expanding PIGM-related disorders to coding mutations', Journal of the European Academy of Dermatology and Venereology, vol. 39, no. 10, pp. e841-e844. https://doi.org/10.1111/jdv.20578

TY - JOUR

T1 - Expanding PIGM-related disorders to coding mutations

AU - Nicolle, Romain

AU - Russell, Laura

AU - Abadie, Véronique

AU - Nitschke, Patrick

AU - Bole, Christine

AU - Guay, Simon Pierre

AU - Nguyen, Thi Tuyet Mai

AU - Leclerc-Mercier, Stéphanie

AU - Lyonnet, Stanislas

AU - Steffann, Julie

AU - Campeau, Philippe M.

AU - Mashiah, Jacob

AU - Bodemer, Christine

AU - Hadj-Rabia, Smail

AU - Amiel, Jeanne

PY - 2025/10

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SN - 0926-9959

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JO - Journal of the European Academy of Dermatology and Venereology

JF - Journal of the European Academy of Dermatology and Venereology

IS - 10

ER -

Expanding PIGM-related disorders to coding mutations

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