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Can I read SHORT syndrome: A new case with probable autosomal dominant inheritance on EtoBox?
SHORT syndrome: A new case with probable autosomal dominant inheritance by Sorge, Giovanni; Ruggieri, Martino; Polizzi, Agata; Scuderi, Antonino; Di Pietro, Massimo is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is SHORT syndrome: A new case with probable autosomal dominant inheritance about?
A further case of SHORT syndrome is reported. This 9-year-old Italian boy was short of stature and had partial lipodystrophy, minor facial anomalies, mild hyperextensibility of joints, ocular depression, Rieger anomaly, delay in speech development and in dental eruption. The father and sister showed a striking similarity to the propositus. Moreover, the sister had bilateral and symmetrical lens opacities, which have not been reported previously in affected subjects or their relatives. A variable expression of an autosomal dominant gene can be considered in the present family.
Who reads SHORT syndrome: A new case with probable autosomal dominant inheritance?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Sorge, Giovanni; Ruggieri, Martino; Polizzi, Agata; Scuderi, Antonino; Di Pietro, Massimo
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)
- Published
- 1996
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)