PMC4724082_01
Radiographic image of the wrist and knee in the patient. No rachitic changes were observed in metaphysis
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Fig1
Additionally, there were no skeletal abnormalities on a physical examination and on X-rays (Fig. 1).
Sequence analysis of the GATA3 gene. Electrochromatograms show that the patient and her mother had a heterozygous c.736delGinsAT mutation. The patient's healthy father did not have the mutation
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Fig2
Sequence analysis showed a novel heterozygous mutation in exon 3 of GATA3, c.736delGinsAT (Fig. 2), causing a frameshift with a premature stop codon after a new 57 amino acid sequence (p.G246Mfs57X) (Fig. 3).
Schematic representation of the GATA3 gene. The GATA3 gene consists of six exons as indicated by boxes. Coding exons are shown in gray. The GATA3 gene codes two transactivating domains (TA1 and TA2) and two zinc finger domains (ZnF1 and ZnF2). The coding region begins from exon 2 and the stop codon is located in exon 6. The arrow indicates the mutation site in our patient
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Fig3
Sequence analysis showed a novel heterozygous mutation in exon 3 of GATA3, c.736delGinsAT (Fig. 2), causing a frameshift with a premature stop codon after a new 57 amino acid sequence (p.G246Mfs57X) (Fig. 3).