Syndrome de Pendred
Symptômes
Gestion de la maladie
Gènes analysés
Bibliographie
Garabet Diramerian L, Ejaz S. Pendred Syndrome. 2022 Jun 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-.
.Tawalbeh M, Aburizeg D, Abu Alragheb BO, et al. SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management. Genes (Basel). 2022 Nov 23;13(12):2192. Tian Y, Xu H, Liu D et al. Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene. Mol Genet Genomic Med. 2021 Aug;9(8):e1734. Mol Genet Genomic Med. 2021 Aug;9(8):e1734. Wémeau JL, Kopp P. Pendred syndrome. Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):213-224.