| 概要 |
Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD) is a new multisystem malformation disorder caused by mutations in TBX2. Common clinical manifestations include congenital cardiac defects, skeletal abnormalities, facial dysmorphia, variable developmental delay and endocrine system disorders. TBX2 encodes a T-box transcriptional regulator. T-box family proteins are involved in all stages of embryonic development.
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| 著者 |
Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S, Wangler MF, Bellen HJ, Shashi V, Yamamoto S |
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