Literature DB >> 23436452

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.

Ilse Wieland1, Sigrid Tinschert, Martin Zenker.   

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Year:  2013        PMID： 23436452     DOI： 10.1002/ajmg.a.35764

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

Review 1.  Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.

Authors:  Neera Nathan; Kim M Keppler-Noreuil; Leslie G Biesecker; Joel Moss; Thomas N Darling
Journal:  Dermatol Clin       Date:  2017-01       Impact factor: 3.478

2.  Postmortem Diagnosis of the Proteus Syndrome by Next Generation Sequencing of Affected Brain Tissue.

Authors:  Tiffany G Baker; William B Glen; Robert C Wilson; Nicholas I Batalis; Daynna J Wolff; Cynthia T Welsh
Journal:  Acad Forensic Pathol       Date:  2022-05-05

3.  Lack of mutation-histopathology correlation in a patient with Proteus syndrome.

Authors:  Meggie E Doucet; Hadley M Bloomhardt; Krzysztof Moroz; Marjorie J Lindhurst; Leslie G Biesecker
Journal:  Am J Med Genet A       Date:  2016-04-26       Impact factor: 2.802

4.  AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome.

Authors:  Marjorie J Lindhurst; Ji-An Wang; Hadley M Bloomhardt; Alison M Witkowski; Larry N Singh; David P Bick; Michael J Gambello; Cynthia M Powell; Chyi-Chia Richard Lee; Thomas N Darling; Leslie G Biesecker
Journal:  J Invest Dermatol       Date:  2013-07-24       Impact factor: 8.551
  4 in total

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