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A PIK3CA mutation in an acquired capillary malformation.
Rosenthal J, Sibbald C, Jen M, Deardorff MA, Treat J. Rosenthal J, et al. Among authors: deardorff ma. Pediatr Dermatol. 2020 Jan;37(1):246-247. doi: 10.1111/pde.14068. Epub 2019 Dec 12. Pediatr Dermatol. 2020. PMID: 31830321
Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Lalonde E, Ebrahimzadeh J, Rafferty K, Richards-Yutz J, Grant R, Toorens E, Marie Rosado J, Schindewolf E, Ganguly T, Kalish JM, Deardorff MA, Ganguly A. Lalonde E, et al. Among authors: deardorff ma. Mol Genet Genomic Med. 2019 Mar;7(3):e536. doi: 10.1002/mgg3.536. Epub 2019 Feb 13. Mol Genet Genomic Med. 2019. PMID: 30761771 Free PMC article.
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
Davis S, Ware MA, Zeiger J, Deardorff MA, Grand K, Grimberg A, Hsu S, Kelsey M, Majidi S, Matthew RP, Napier M, Nokoff N, Prasad C, Riggs AC, McKinnon ML, Mirzaa G. Davis S, et al. Among authors: deardorff ma. Am J Med Genet A. 2020 Jan;182(1):162-168. doi: 10.1002/ajmg.a.61403. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729162 Free PMC article.
Segmental congenital hemangiomas: Three cases of a rare entity.
Smith RJ, Metry D, Deardorff MA, Heller E, Grand KL, Iacobas I, Rubin AI, Phung TL, Lopez-Terrada D, Steicher J, Cahill AM, Low D, Treat JR. Smith RJ, et al. Among authors: deardorff ma. Pediatr Dermatol. 2020 May;37(3):548-553. doi: 10.1111/pde.14143. Epub 2020 Apr 7. Pediatr Dermatol. 2020. PMID: 32255239
A human case of SLC35A3-related skeletal dysplasia.
Edmondson AC, Bedoukian EC, Deardorff MA, McDonald-McGinn DM, Li X, He M, Zackai EH. Edmondson AC, et al. Among authors: deardorff ma. Am J Med Genet A. 2017 Oct;173(10):2758-2762. doi: 10.1002/ajmg.a.38374. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777481
187 results