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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report

Fig. 1

Whole-exome and Sanger sequencing results from the proband and her parents. a A deletion occurred in the detected region of chromosome 17 (chr17:61973811–61996255) of the proband (II-1) and the father (I-1). b A homozygous mutation (c.10 + 1G>T) existed in the proband (II-1), and a heterozygous mutation (c.10 + 1G>T) existed in the mother (I-2). c Pedigree of the proband (II-1), I-1 and I-2 represent the father and the mother

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