Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092).
Alleles
Aminopyridines
/ administration & dosage
Duration of Therapy
Humans
Image Processing, Computer-Assisted
Imidazoles
/ administration & dosage
Magnetic Resonance Imaging
Male
Mutation
Phenotype
Polymorphism, Single Nucleotide
Protein Kinase Inhibitors
/ administration & dosage
Proteus Syndrome
/ diagnosis
Proto-Oncogene Proteins c-akt
/ antagonists & inhibitors
Young Adult
abnormal plantar dermatoglyphics
abnormal subcutaneous fat tissue distribution
attention deficit hyperactivity disorder
hypercoagulability
hypertrophy of skin of soles
intellectual disability
macrodactyly of finger
macrodactyly of toe
moderate
neoplasia of the male external genitalia
ovarian neoplasm
overgrowth
postnatal macrocephaly
prominent veins on trunk
proportionate tall stature
testicular neoplasm
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:
02 2020
02 2020
Historique:
received:
28
06
2019
accepted:
04
10
2019
entrez:
5
2
2020
pubmed:
6
2
2020
medline:
28
5
2021
Statut:
epublish
Résumé
A 20-yr-old man with Proteus syndrome (PS) and somatic mosaicism of the
Identifiants
pubmed: 32014856
pii: mcs.a004549
doi: 10.1101/mcs.a004549
pmc: PMC6996520
pii:
doi:
Substances chimiques
Aminopyridines
0
Imidazoles
0
Protein Kinase Inhibitors
0
Proto-Oncogene Proteins c-akt
EC 2.7.11.1
Miransertib
T1DQI1B52Y
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2020 Biesecker et al.; Published by Cold Spring Harbor Laboratory Press.
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