Proteus syndrome review: Molecular, clinical, and pathologic features

Clinical Genetics

Volumn 85, Issue 2, 2014, Pages 111-119

  Cohen, M Michae ^a  

^a DALHOUSIE UNIVERSITY   (Canada)

Author keywords

AKT1 mutation; Bullous lung alterations; Cerebriform connective tissue nevus; Deep vein thrombosis; Diagnostic criteria; Differential diagnosis; Disproportionate overgrowth; Dysregulated adipose tissue; Epidermal nevus; Joseph Merrick; Management; Natural history; Psychosocial issues; Skeletal anomalies; Unusual neoplasms; Vascular malformations

Indexed keywords

ACANTHOSIS; ADENOMA; ADIPOSE TISSUE; ALEXANDER DISEASE; BIRTH WEIGHT; BRAIN MALFORMATION; CEREBRIFORM CONNECTIVE TISSUE NEVUS; CONGENITAL BLOOD VESSEL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; CYST; CYSTADENOMA; DEEP VEIN THROMBOSIS; DIFFERENTIAL DIAGNOSIS; EPIBULBAR DERMOID; FACE ASYMMETRY; GENE MUTATION; HIGH MYOPIA; HISTOPATHOLOGY; HUMAN; HYDROCEPHALUS; HYDRONEPHROSIS; HYPERKERATOSIS; HYPEROSTOSIS; HYPOPIGMENTATION; HYPOPLASIA; INTELLECTUAL IMPAIRMENT; KIDNEY CYST; KIDNEY DISEASE; LUNG DISEASE; MEDICAL HISTORY; MENINGIOMA; MESOTHELIOMA; MONOMORPHIC ADENOMA; MOSAICISM; MULTIPLE CANCER; NEVUS; OVARY CANCER; OVARY CYSTADENOMA; PAROTID GLAND CANCER; PAROTID GLAND MONOMORPHIC ADENOMA; PRIORITY JOURNAL; RENAL ASYMMETRY; RETINA DISEASE; RETINAL PIGMENTARY ANOMALY; REVIEW; SEIZURE; SKELETON MALFORMATION; SKIN HYPOPLASIA; STRABISMUS; SUBCUTANEOUS FAT; TERATOMA; TESTIS TUMOR; GENETICS; LIPOMA; MISSENSE MUTATION; PATHOLOGY; PHENOTYPE; PROTEUS SYNDROME;

AKT1 PROTEIN, HUMAN; PROTEIN KINASE B;

DIAGNOSIS, DIFFERENTIAL; HUMANS; LIPOMA; MUTATION, MISSENSE; PHENOTYPE; PROTEUS SYNDROME; PROTO-ONCOGENE PROTEINS C-AKT;

EID: 84892488334     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12266     Document Type: Review

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