[Clinical and genetic characteristics of a young child with combined pituitary hormone deficiency type I caused by POU1F1 gene variation].

@article{Chen2019ClinicalAG,
  title={[Clinical and genetic characteristics of a young child with combined pituitary hormone deficiency type I caused by POU1F1 gene variation].},
  author={J. Chen and Xing-xing Zhang and X. Wu and Jun Yu Li},
  journal={Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics},
  year={2019},
  volume={21 7},
  pages={
          685-689
        }
}
  • J. Chen, Xing-xing Zhang, +1 author Jun Yu Li
  • Published 2019
  • Biology, Medicine
  • Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
  • This paper reports the clinical and genetic characteristics of a case of combined pituitary hormone deficiency type I (CPHD1) caused by POU domain, class 1, transcription factor 1 (POU1F1) gene variation. A 2 years and 3 months old girl mainly presented with short stature, special facial features of prominent forehead, enophthalmos, and short mandible, loose skin, central hypothyroidism, complete growth hormone deficiency, and anterior pituitary hypoplasia. Gene analysis identified a novel… CONTINUE READING

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