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Project
Metadata Commons Identifier
HMC000072
Required
Project Title
Whole Exome Sequencing of Neonatal Diffuse Cutaneous Mastocytosis
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Project Description
<p>This is metadata from a single case study of Neonatal Diffuse Cutaneous Mastocytosis (NDCM) where WES was performed from a FFPE block from a punch biopsy. </p> <p>The data that support the findings of this study are available on request from the corresponding authors (https://www.mdpi.com/2073-4425/14/11/2021). </p>
Project Funder(s)
Universitatea de Medicina si Farmacie Victor Babes, Timisoara, Romania
Project Institution(s)
Universitatea de Medicina si Farmacie Victor Babes, Timisoara, Romania
Project Investigator(s)
Emilian Olteanu
,
Adela-Chirita Emandi
Contact Investigator...
Data Access Request URL*
Keywords
KIT gene; diffuse neoneonatal cutaneous mastocytosis; WES; rare pathology
Publication Link
https://www.mdpi.com/2073-4425/14/11/2021
Study Completed
Cohort
Cohort Name
WES of Neonatal Diffuse Cutaneous Mastocytosis
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Study Design
Prospective-interventional
Cohort Size
1
Disease/Condition Studied
diffuse cutaneous mastocytosis
Enrollment Time Window
2021
Enrollment City
Biobanking Consent Available
Medical History Available
Ethnicity Availability
Time Course
Patient Phenotypes
Normal phenotype
Patient Outcomes
Lost to clinical follow-up after 2 year of follow-up
Clinical Data Types Available
Age, Sex, Darier sign, Systemic Involvement, Positive blood markers, Bone-marrow biopsy, IHC, Variant testing, Treatment, Follow up, Complications, Vital status
Time Course Data Points
Groups
Samples and Omics