Nephroblastomatosis or Wilms tumor in a fourth patient with a somaticPIK3CAmutation
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Title
Nephroblastomatosis or Wilms tumor in a fourth patient with a somaticPIK3CAmutation
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 10, Pages 2559-2569
Publisher
Wiley
Online
2016-05-18
DOI
10.1002/ajmg.a.37758
References
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Note: Only part of the references are listed.- Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA
- (2015) Valerie L. Luks et al. JOURNAL OF PEDIATRICS
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- (2014) Ana S. A. Cohen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- ActivatingPIK3CAsomatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity
- (2014) Claudia Castiglioni et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
- (2014) Kim M. Keppler-Noreuil et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Clinical delineation and natural history of thePIK3CA-related overgrowth spectrum
- (2014) Kim M. Keppler-Noreuil et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- COSMIC: exploring the world's knowledge of somatic mutations in human cancer
- (2014) Simon A. Forbes et al. NUCLEIC ACIDS RESEARCH
- Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
- (2012) Kyle C. Kurek et al. AMERICAN JOURNAL OF HUMAN GENETICS
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- (2012) Jonathan J. Rios et al. HUMAN MOLECULAR GENETICS
- Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
- (2012) Marjorie J Lindhurst et al. NATURE GENETICS
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- (2012) Jean-Baptiste Rivière et al. NATURE GENETICS
- De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
- (2012) Jeong Ho Lee et al. NATURE GENETICS
- Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
- (2012) Annapurna Poduri et al. NEURON
- CLOVE(S) syndrome: Expanding the acronym
- (2009) Ahmad I. Alomari AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The Misnomer “Macrocephaly–Cutis Marmorata Telangiectatica Congenita Syndrome”
- (2009) Dakara Rucker Wright et al. ARCHIVES OF DERMATOLOGY
- Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia
- (2009) Carol L Clericuzio et al. GENETICS IN MEDICINE
- Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder
- (2008) Zoran S. Gucev et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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