A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).
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| Description | scientific article published in June 2016 |
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author: Luciani Renata Carvalho Ubiratan Fabres Machado Berenice Bilharinho Mendonça João Luiz de Oliveira Madeira |
| Publication date | June 1, 2016 |
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