Allelic heterogeneity of Proteus syndrome.
Alleles
Allelic Imbalance
Amino Acid Substitution
Cervical Vertebrae
/ abnormalities
Genetic Association Studies
Genetic Heterogeneity
Genetic Predisposition to Disease
Genetic Testing
Humans
Infant
Magnetic Resonance Imaging
Male
Medical History Taking
Mutation
Phenotype
Proteus Syndrome
/ diagnosis
Proto-Oncogene Proteins c-akt
/ genetics
Radiography
Symptom Assessment
contractures of the large joints
fibrocystic lung disease
increased adipose tissue
lower limb asymmetry
overgrowth
upper limb asymmetry
venous malformation
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
21
01
2020
accepted:
19
02
2020
pubmed:
25
4
2020
medline:
29
5
2021
entrez:
25
4
2020
Statut:
epublish
Résumé
Proteus syndrome is a mosaic disorder that can cause progressive postnatal overgrowth of nearly any organ or tissue. To date, Proteus syndrome has been exclusively associated with the mosaic c.49G > A p.(Glu17Lys) pathogenic variant in
Identifiants
pubmed: 32327430
pii: mcs.a005181
doi: 10.1101/mcs.a005181
pmc: PMC7304363
pii:
doi:
Substances chimiques
AKT1 protein, human
EC 2.7.11.1
Proto-Oncogene Proteins c-akt
EC 2.7.11.1
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Published by Cold Spring Harbor Laboratory Press.
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