Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies-Reference-Cited by-同舟云学术

Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies

Published:2021-07 Issue: Volume: Page:
ISSN:0190-9622
Container-title:Journal of the American Academy of Dermatology
language:en
Short-container-title:Journal of the American Academy of Dermatology

Author:

Davies Olivia M.T.,Garzon Maria C.,Frieden Ilona J.,Cottrell Catherine E.,Gripp Karen W.,Saneto Russell P.,Shwayder Tor,Mirzaa Ghayda M.,Drolet Beth A.

Funder

National Institute of Neurological Disorders and Stroke

Publisher

Elsevier BV

Subject

Dermatology

Reference5 articles.

1. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia;Jansen;Brain,2015

2. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly;Alcantara;Brain,2017

3. The misnomer “macrocephaly-cutis marmorata telangiectatica congenita syndrome”: report of 12 new cases and support for revising the name to macrocephaly-capillary malformations;Wright;Arch Dermatol,2009

4. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes;Rivière;Nat Genet,2012

5. Diagnostic utility of next-generation sequencing for disorders of somatic mosaicism: a five-year cumulative cohort;McNulty;Am J Hum Genet,2019

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