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doi: 10.1186/s13045-018-0559-7 25 KwongY-LChanTSYTanDKimSJPoonL-MMowBet al

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Among the defects causing aberrant GHR splicing, an intronic base change leading to the activation of a pseudoexon sequence and insertion of 36 new amino acids within the receptor extracellular domain was first reported in a consanguineous Pakistani family with mild GHI (Metherell et al., GHR mutations causing a dominant-negative effect (Ayling et al., Differing phenotypes within the same family may also occur, as reported with one sibling having extreme growth failure (adult height 8.7 SDS) and a second a milder phenotype (adult height 6.0 SDS