PMC10086226_01
Full body photo.
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F1
His primary hearing screening was normal (see Figure 1) as the result of auditory brain response (ABR) examination by MEB-9404C machine.
Showcasing a timeline with relevant data from the episode of care.
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F2
Insulin and C-peptide release test.
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F3
The patient's insulin and connecting peptide (C-peptide) release test results are shown in Figure 3.
Sequencing results of PCR products of the proband and his family members.
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F4
As a result, the encoded protein was terminated in advance at amino acid 81, shortening the 327 amino acids (c.241(exon 3) C>T, p.R81X,327) (see Figure 4).The associated diseases were short stature, nail hypoplasia, facial dysmorphism, hypotrichosis, all of which are associated with SOFT syndrome (clinically characterised by diabetes, short stature, and phalangeal abnormalities in the fingers).