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  4. Atrophic violaceous plaques as the first manifestation of a disorder of GNAS inactivation
Details

Atrophic violaceous plaques as the first manifestation of a disorder of GNAS inactivation

Journal
Pediatric Dermatology
ISSN
0736-8046
1525-1470
Date Issued
2023
Author(s)
Marie‐Chantal Caussade
Camila Downey
Facultad de Medicina Clínica Alemana Universidad del Desarrollo  
Daniela Kramer
Claudia Morales
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85158090843
WoS ID
WOS:000980836700001
DOI
10.1111/pde.15339
URL
https://investigadores.udd.cl/handle/123456789/6230
Subjects
dermatopathology

; 

genodermatoses

; 

gnas

; 

heterotopic ossification

; 

pediatrics

; 

atrophy

; 

chromogranins

; 

connective tissue diseases

; 

female

; 

gtp-binding protein alpha subunits, gs

; 

humans

; 

infant

; 

ossification, heterotopic

; 

skin

; 

calcium

; 

magnesium

; 

parathyroid hormone

; 

phosphorus

; 

smooth muscle actin

; 

vitamin d

; 

chromogranin

; 

gnas protein, human

; 

stimulatory guanine nucleotide binding protein

; 

article

; 

atrophic violaceous plaque

; 

blood cell count

; 

bone disease

; 

bone metaplasia

; 

bone tissue

; 

calcification

; 

calcium blood level

; 

case report

; 

child

; 

clinical article

; 

clinical feature

; 

dermis

; 

epidermis

; 

failure to thrive

; 

female

; 

follow up

; 

gene

; 

gene inactivation

; 

genetic analysis

; 

genetic variability

; 

genodermatosis

; 

gnas gene

; 

gnas inactivation disorder

; 

hand radiography

; 

heterotopic ossification

; 

human

; 

human cell

; 

human tissue

; 

infant

; 

laboratory test

; 

magnesium blood level

; 

medical history

; 

ossification

; 

parathyroid hormone blood level

; 

patient referral

; 

phosphate blood level

; 

physical examination

; 

preschool child

; 

skin biopsy

; 

skin manifestation

; 

small for gestational age

; 

spindle cell

; 

thyroid function

; 

ultrasound

; 

vitamin blood level

; 

atrophy

; 

connective tissue disease

; 

genetics

; 

heterotopic ossification

; 

pathology

; 

skin
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