Total: 1 |
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PMID (PMCID) | ||
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23678273 (3653094) |
FEMALE | Infant, Newborn |
First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. | ||
Ko JM, Choi IH, Baek GH, Kim KW. J Korean Med Sci. 2013;28(5):780-3. |
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The affected mother and daughter manifested typical facial features of SHS including a triangular face with downslanting palpebral fissures, small mouth, high arched palate, and prominent nasolabial folds, and showed camptodactyly of fingers and deformities of feet with congenital vertical tali. |