Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis
โ Scribed by Eva Klopocki; Silke Lohan; Francesco Brancati; Randi Koll; Anja Brehm; Petra Seemann; Katarina Dathe; Sigmar Stricker; Jochen Hecht; Kristin Bosse; Regina C. Betz; Francesco Giuseppe Garaci; Bruno Dallapiccola; Mahim Jain; Maximilian Muenke; Vivian C.W. Ng; Wilson Chan; Danny Chan; Stefan Mundlos
- Book ID
- 113422961
- Publisher
- American Society of Human Genetics
- Year
- 2011
- Tongue
- English
- Weight
- 538 KB
- Volume
- 88
- Category
- Article
- ISSN
- 0002-9297
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## Abstract ## Objective Systemic lupus erythematosus (SLE) represents the classic prototype of systemic autoimmune disease. The identification of the Th17 cell subset has provided new understanding regarding the underlying mechanisms of autoimmunity. Copy number variations (CNVS) have been discov