:

Nicolas Rive Le Gouard1,2,3, Valentin Lafond-Rive4, Laurence Jonard1

  • 1Centre de Référence «Surdités Génétiques», Fédération de Médecine Génomique; Hôpital Necker-Enfants Malades, AP-HP, Université de Paris Cité, Paris, France.

Clinical genetics
|June 28, 2024
PubMed
概括

遗传性缺甲状腺症,聋和功能障碍 (HDR) 综合征与GATA3基因变异有关. 这项研究澄清了基因型-表型相关性,发现听力损失很常见,生殖器形/形报告不足.

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