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Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med. 2024 Apr;26(4):101057. doi: 10.1016/j.gim.2023.101057. Epub 2023 Dec 27.
Genet Med. 2024.
PMID: 38158856
Free article.
Delayed eczematous skin reaction as an adverse drug reaction to immunoglobulin infusions: A case series.
Barthel C, Musquer M, Veyrac G, Bernier C.
Barthel C, et al. Among authors: musquer m.
Ann Dermatol Venereol. 2022 Dec;149(4):264-270. doi: 10.1016/j.annder.2022.05.002. Epub 2022 Jun 24.
Ann Dermatol Venereol. 2022.
PMID: 35753818
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Treatment of Eosinophilic Annular Erythema: Retrospective multicenter study and literature review.
Chastagner M, Shourik J, Jachiet M, Battistella M, Lefevre G, Gibier JB, Aubert H, Musquer M, Descamps V, Deschamps L, Chosidow O, Ortonne N, Groh M, Bernier M, Jullien D, Chasset F, Staumont-Salle D, Bouaziz JD, Kanitakis J, Villani AP.
Chastagner M, et al. Among authors: musquer m.
Ann Dermatol Venereol. 2022 Jun;149(2):123-127. doi: 10.1016/j.annder.2021.07.007. Epub 2021 Oct 27.
Ann Dermatol Venereol. 2022.
PMID: 34716028
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The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
Ghesh L, Musquer MD, Devisme L, Stichelbout M, Boutaud L, Elkhartoufi N, Vaast P, Boute O, Riteau AS, Le Vaillant C, Winer N, Joubert M, Bezieau S, Thomas S, Attie-Bitach T, Beneteau C.
Ghesh L, et al. Among authors: musquer md.
Clin Genet. 2021 Oct;100(4):462-467. doi: 10.1111/cge.14021. Epub 2021 Jul 13.
Clin Genet. 2021.
PMID: 34212369
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