PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

Clinical delineation and natural history of thePIK3CA-related overgrowth spectrum

(2014) Kim M. Keppler-Noreuil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Megalencephaly Syndromes and Activating Mutations in the PI3K-AKT Pathway: MPPH and MCAP

(2013) GHAYDA M. MIRZAA et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

CLOVES Syndrome

(2013) Jacob Bloom et al.   JOURNAL OF HAND SURGERY-AMERICAN VOLUME

AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome

(2013) Marjorie J. Lindhurst et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Fibro-Adipose Vascular Anomaly

(2013) Ahmad I. Alomari et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

PIK3CA Activating Mutations in Facial Infiltrating Lipomatosis

(2013) Reid A. Maclellan et al.   PLASTIC AND RECONSTRUCTIVE SURGERY

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

(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

Complex Spinal-Paraspinal Fast-Flow Lesions in CLOVES Syndrome: Analysis of Clinical and Imaging Findings in 6 Patients

(2011) A.I. Alomari et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis

(2011) L. Groesser et al.   BRITISH JOURNAL OF DERMATOLOGY

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

An Activating Mutation of AKT2 and Human Hypoglycemia

(2011) K. Hussain et al.   SCIENCE

CLOVES syndrome with thoracic and central phlebectasia: Increased risk of pulmonary embolism

(2010) Ahmad I. Alomari et al.   JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY

Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome

(2008) Ahmad I. Alomari   CLINICAL DYSMORPHOLOGY

Neurofibromatosis Type 1 Revisited

(2008) V. C. Williams et al.   PEDIATRICS