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BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Genet Med. 2020 Oct;22(10):1613-1622. doi: 10.1038/s41436-020-0867-5. Epub 2020 Jun 22.
Genet Med. 2020.
PMID: 32565547
Free PMC article.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
Fusaro M, Vincent A, Castelle M, Rosain J, Fournier B, Veiga-da-Cunha M, Kentache T, Serre J, Fallet-Bianco C, Delezoide AL, Renesme L, Picard FM, Lasseaux E, Aladjidi N, Seta N, Cormier-Daire V, Schaftingen EV, Neven B, Moshous D, Blesson S, Picard C.
Fusaro M, et al. Among authors: picard fm.
J Clin Immunol. 2021 Jul;41(5):958-966. doi: 10.1007/s10875-021-00985-w. Epub 2021 Feb 3.
J Clin Immunol. 2021.
PMID: 33534079
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Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study.
Legoupil S, Bessis D, Picard F, Mallet S, Mazereeuw J, Phan A, Dupin-Deguine D, Kalamarides M; Research Group of the French Society of Paediatric Dermatology; Chiaverini C.
Legoupil S, et al.
Orphanet J Rare Dis. 2022 Jun 21;17(1):242. doi: 10.1186/s13023-022-02379-6.
Orphanet J Rare Dis. 2022.
PMID: 35729665
Free PMC article.
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Phenotype and genotype in Nicolaides-Baraitser syndrome.
Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium.
Sousa SB, et al.
Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):302-14. doi: 10.1002/ajmg.c.31409. Epub 2014 Aug 28.
Am J Med Genet C Semin Med Genet. 2014.
PMID: 25169058
Review.
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