| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8312213 | Clinica Chimica Acta | 2014 | 5 Pages |
Abstract
We speculated that the 2q31.1 deletion and/or translocation may have a positional effect which reduces expression of HOXD13 and CHN1 causing haplo-insufficiency, and in combination with the hemizygous expression of the disease genes at 2q31.1, provides a plausible explanation for the diverse clinical symptoms exhibited by the patient.
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Authors
Ting Wang, Jun Mao, Min-Juan Liu, Kwong Wai Choy, Hai-Bo Li, David S. Cram, Hong Li, Ying Chen,