SHORT syndrome in an adult Brazilian patient

We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs pre...

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Veröffentlicht in:	American journal of medical genetics. Part A 2022-05, Vol.188 (5), p.1635-1638
Hauptverfasser:	Gonçalves, Ana Caroline G., Moretti, Patricia N., Cordoba, Mara S., Oliveira, Renata S., Lopes, Fernanda S. C., Oliveira, Silviene F., Pic‐Taylor, Aline, Castro, Luiz Claudio, Mazzeu, Juliana F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Brazil Class Ia Phosphatidylinositol 3-Kinase - genetics Diagnosis Genotypes Growth Disorders Growth hormones Hernia Humans Hypercalcemia insulin resistance Intellectual disabilities Metabolic Diseases Microcephaly Nephrocalcinosis - diagnosis Nephrocalcinosis - genetics Patients Phenotype Phenotypes PIK3R1 progeroid appearance short stature SHORT syndrome
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