| 1 | DAIPT, PIEZO2
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| Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.
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| Mahmud AA, Nahid NA, Nassif C, Sayeed MS, Ahmed MU, Parveen M, Khalil MI, Islam MM, Nahar Z, Rypens F, Hamdan FF, Rouleau GA, Hasnat A, Michaud JL.
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| Clin Genet lin Genet. 2016 Sep 8. doi: 10.1111/cge.12850. [Epub ahead of print]
2016
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| 2 | DAIPT, PIEZO2
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| Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
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| Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B.
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| Am J Hum Genet 99(5):1206-1216. doi: 10.1016/j.ajhg.2016.09.019.
2016
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| 3 | DAIPT, PIEZO2
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| Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
|
| Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B.
|
| Am J Hum Genet 99(5):1206-1216. doi: 10.1016/j.ajhg.2016.09.019.
2016
|
| 4 | DAIPT, PIEZO2
|
| Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
|
| Delle Vedove A, Storbeck M, Heller R, Hölker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B.
|
| Am J Hum Genet 99(6):1406-1408. doi: 10.1016/j.ajhg.2016.11.009. No abstract available.
2016
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