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A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea

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참고문헌 (7)

  1. Tompson SW, "Fibrochondrogenesis results from variants in the COL11A1 type XI collagen gene", The American Journal of Human Genetics, 87, pp.708~712 (2010)
  2. Bekdache GN, "Fibrochondrogenesis : prenatal diagnosis and outcome", Journal of Obstetrics and Gynaecology, 33, pp.663~668 (2013)
  3. Al-Gazali LI, "Erratum : Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population", Birth Defects Research Part A-Clinical and Molecular Teratology, 67, pp.125~132 (2003)
  4. Dong Z, "Identification of novel heterozygous missense variant in the COL11A1 causing fetal craniofacial anomalies", All Life, 15, pp.240~246 (2022)
  5. Čopíková J, "Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes", Annals of Human Genetics, 84, pp.380~392 (2020)
  6. Hufnagel SB, "A novel dominant COL11A1 variant resulting in a severe skeletal dysplasia", American Journal of Medical Genetics Part A, 164, pp.2607~2612 (2014)
  7. Plachy L, "Familial short stature—a novel phenotype of growth plate collagenopathies", The Journal of Clinical Endocrinology & Metabolism, 106, pp.1742~1749 (2021)

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