内分泌驼:扩大婴儿类伪低甲状腺症1A的表型

Martin Munteanu1, Elisabeth Resch1, Victor Bildheim1

  • 1Department of Pediatrics, Katholisches Klinikum Bochum, Ruhr-University Bochum, Bochum, Germany.

PubMed
概括

缺活性甲状腺激素 (PTH) /PTHrP信号障碍 (iPPSD) 可以出现严重的早期症状,包括胃肠道,肺和内分泌问题. 早期识别这种GNAS相关疾病对于及时诊断和管理至关重要.

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