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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.
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.
Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
Gripp KW, Robbins KM, Sheffield BS, Lee AF, Patel MS, Yip S, Doyle D, Stabley D, Sol-Church K. Gripp KW, et al. Among authors: patel ms. Am J Med Genet A. 2016 Mar;170(3):559-64. doi: 10.1002/ajmg.a.37471. Epub 2015 Nov 17. Am J Med Genet A. 2016. PMID: 26572961 Free PMC article.
830 results