Ann Pediatr Endocrinol Metab.  2023 Dec;28(Suppl 1):S25-S28. 10.6065/apem.2244052.026.

Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review

• Kim MR
• Yoo EG
• Rhie S
• Seo GH
• Jung MK

• KMID: 2549336
• DOI: http://doi.org/10.6065/apem.2244052.026

Figure

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  Fig. 1. Family tree and chromatograms of the causative genetic mutation in the patient and parents. The blank square and circle indicate the unaffected father and mother, respectively; the filled square indicates the affected patient. Sanger sequencing confirmed a c.731T>G (p.Leu244*) mutation in the KMT2A gene of the patient. However, the parents did not have a mutation in the KMT2A gene. WT, wild type.

Reference

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