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Items: 8

1.

Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

Nathan N, Keppler-Noreuil KM, Biesecker LG, Moss J, Darling TN.

Dermatol Clin. 2017 Jan;35(1):51-60. doi: 10.1016/j.det.2016.07.001. Review.

PMID:
27890237
2.

Linear Darier's disease: A case with bilateral presentation.

Bordoloi AJ, Barua KN.

Indian Dermatol Online J. 2015 Sep-Oct;6(5):345-7. doi: 10.4103/2229-5178.164485.

3.

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB.

Brain. 2015 Jun;138(Pt 6):1613-28. doi: 10.1093/brain/awv045. Epub 2015 Feb 25.

4.

Crusted papules in a linear distribution on the leg of an adult woman.

Emer J, Pacific K, Marciniak B, Sidhu H, Phelps R.

J Clin Aesthet Dermatol. 2013 Jan;6(1):47-50. No abstract available.

5.

Basal Cell Carcinoma in Type 2 Segmental Darier's Disease.

Robertson L, Sauder MB.

J Skin Cancer. 2012;2012:839561. doi: 10.1155/2012/839561. Epub 2011 Jul 31.

6.

Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.

Poblete-Gutiérrez P, Wiederholt T, König A, Jugert FK, Marquardt Y, Rübben A, Merk HF, Happle R, Frank J.

J Clin Invest. 2004 Nov;114(10):1467-74.

7.

Ophthalmological manifestations in segmental neurofibromatosis type 1.

Ruggieri M, Pavone P, Polizzi A, Di Pietro M, Scuderi A, Gabriele A, Spalice A, Iannetti P.

Br J Ophthalmol. 2004 Nov;88(11):1429-33.

8.

Nailing down a link between tuberin and renal cysts.

Hockenbery DM.

Am J Pathol. 2003 Feb;162(2):369-71. Review. No abstract available.

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