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SHORT syndrome with partial lipodystrophy due to impaired PI 3-kinase signalling - Media Centre | EASD
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Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome | BMC Medical Genetics | Full Text
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The patient 1 at 3 years of age: short stature, prominent forehead,... | Download Scientific Diagram
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A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature | BMC Medical Genetics | Full Text
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Clinical features of Floating Harbor Syndrome in our patient. Small... | Download Scientific Diagram
![Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay: MedlinePlus Genetics Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay: MedlinePlus Genetics](https://medlineplus.gov/images/PX0003TK_PRESENTATION.jpeg)
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay: MedlinePlus Genetics
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Facial Features of Individuals Clinically Diagnosed with SHORT Syndrome... | Download Scientific Diagram
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