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Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.
Delplancq G, Tarris G, Vitobello A, Nambot S, Sorlin A, Philippe C, Carmignac V, Duffourd Y, Denis C, Eicher JC, Chevarin M, Millat G, Khallouk B, Rousseau T, Falcon-Eicher S, Vasiljevic A, Harizay FT, Thauvin-Robinet C, Faivre L, Kuentz P. Delplancq G, et al. Among authors: faivre l. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):129-135. doi: 10.1002/ajmg.c.31766. Epub 2020 Jan 22. Am J Med Genet C Semin Med Genet. 2020. PMID: 31965688
Clinical and genetic heterogeneity of Seckel syndrome.
Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2002 Nov 1;112(4):379-83. doi: 10.1002/ajmg.10677. Am J Med Genet. 2002. PMID: 12376940
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
Thauvin-Robinet C, Faivre L, Lewin P, De Monléon JV, François C, Huet F, Couailler JF, Campos-Xavier AB, Bonaventure J, Le Merrer M. Thauvin-Robinet C, et al. Among authors: faivre l. Am J Med Genet A. 2003 May 15;119A(1):81-4. doi: 10.1002/ajmg.a.10238. Am J Med Genet A. 2003. PMID: 12707965 No abstract available.
760 results