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11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features

✍ Scribed by Ariana Kariminejad; Roxana Kariminejad; Andreas Tzschach; Hamid Najafi; Alischo Ahmed; Reinhard Ullmann; Hans-Hilger Ropers; Mohamad Hasan Kariminejad


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
121 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Single nucleotide polymorphism discovery
✍ Carrie L. Heike; Jacqueline R. Starr; Mark J. Rieder; Michael L. Cunningham; Kar πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 335 KB

## Abstract ## BACKGROUND: Children with 22q11.2 deletion syndrome (22q11.2DS) have a wide range of clinical features. __TBX1__ has been proposed as a candidate gene for some of the features in this condition. Polymorphisms in the nondeleted __TBX1,__ which may affect the function of the sole __TB