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Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

✍ Scribed by Lize V. Ferreira; Silvia C. A. L. Souza; Luciana R. Montenegro; Alexsandra C. Malaquias; Ivo J. P. Arnhold; Berenice B. Mendonca; Alexander A. L. Jorge


Book ID
108704111
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
110 KB
Volume
69
Category
Article
ISSN
0300-0664

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Meier-Gorlin syndrome (ear-patella-short
✍ Cohen, Amnon ;Mulas, Roberta ;Seri, Marco ;Gaiero, Alberto ;Fichera, Graziella ; πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 195 KB πŸ‘ 2 views

## Abstract We report on an Italian boy with the Meier‐Gorlin syndrome (ear–patella–short stature syndrome). This rare autosomal recessive disorder comprises the triad of microtia, absent patellae, and growth retardation with prenatal onset. The patient had also an acute torsion of his left spermat