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Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W. Meester JA, et al. Among authors: patel ms. Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub 2015 Aug 20. Am J Hum Genet. 2015. PMID: 26299364 Free PMC article.
Childhood-onset hemiatrophy caused by unilateral morphea.
Lehman AM, Patel MS. Lehman AM, et al. Among authors: patel ms. Clin Dysmorphol. 2009 Oct;18(4):213-4. doi: 10.1097/MCD.0b013e32832a9e0c. Clin Dysmorphol. 2009. PMID: 19543082 No abstract available.
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Stittrich AB, et al. Among authors: patel ms. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014.07.011. Epub 2014 Aug 14. Am J Hum Genet. 2014. PMID: 25132448 Free PMC article.
NOTCH1 loss of the TAD and PEST domain: An antimorph?
Boerkoel P, Huynh S, Yang GX, Boerkoel CF, Patel MS, Lehman A, Terry J, Elbert A. Boerkoel P, et al. Among authors: patel ms. Am J Med Genet A. 2023 Jun;191(6):1593-1598. doi: 10.1002/ajmg.a.63167. Epub 2023 Mar 3. Am J Med Genet A. 2023. PMID: 36866832
832 results