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Analysis of Short Stature Cases Referred for Genetic Evaluation

✍ Scribed by Anupriya Kaur, Shubha R. Phadke

Book ID
118822905
Publisher
Springer-Verlag
Year
2012
Tongue
English
Weight
86 KB
Volume
79
Category
Article
ISSN
0019-5456

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## Abstract A series of 125 patients referred primarily with aniridia classified as either sporadic (74), familial (24), or in association with WAGR syndrome (14) or other malformations (13) was analysed for mutations, initially by karyotyping and targeted FISH analysis of chromosome 11p13. These m