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FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Mazel B, Delanne J, Garde A, Racine C, Bruel AL, Duffourd Y, Lopergolo D, Santorelli FM, Marchi V, Pinto AM, Mencarelli MA, Canitano R, Valentino F, Papa FT, Fallerini C, Mari F, Renieri A, Munnich A, Niclass T, Le Guyader G, Thauvin-Robinet C, Philippe C, Faivre L. Mazel B, et al. Among authors: faivre l. Am J Med Genet B Neuropsychiatr Genet. 2024 Mar 8:e32970. doi: 10.1002/ajmg.b.32970. Online ahead of print. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38459409
Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome.
Faivre L, Nivelon-Chevallier A, Kottler ML, Robinet C, Khau Van Kien P, Lorcerie B, Munnich A, Maroteaux P, Cormier-Daire V, LeMerrer M. Faivre L, et al. Am J Med Genet. 2001 Mar 1;99(2):132-6. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1135>3.0.co;2-a. Am J Med Genet. 2001. PMID: 11241472 Review.
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. J Med Genet. 2001 Nov;38(11):745-9. doi: 10.1136/jmg.38.11.745. J Med Genet. 2001. PMID: 11694546 Free PMC article.
729 results