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- [5] Short stature due to a novel missense variant (695C>A) in the GHR gene: a case report HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 270 - 270
- [6] A Case of Familial Short Stature: A Novel Variant of ACAN HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 315 - 315
- [7] Short stature in Klinefelter syndrome from Aggrecan gene mutation HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 (SUPPL 3): : 158 - 159
- [8] A Novel Heterozygous Pathogenic Variant in PORCN Gene Causing Focal Dermal Hypoplasia with Short Stature: Case Report and Literature Review HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 459 - 459
- [10] Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature FRONTIERS IN PEDIATRICS, 2024, 12