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Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62951Source: DataRank Database

Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas is a research paper published in American Journal of Medical Genetics Part A (2022). On theSindex it has a DataRank of 0. It has been cited 7 times.

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Open Access7 citations

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Enrichment:Funding (5 grants)OA: greenTopics (20)IDs (PubMed, PMC)Annotations (1)

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Findable (1/2)

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Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (7)

Nelson Ugwu ORCID,Lionel Bercovitch ORCID,Leslie Robinson‐Bostom ORCID,Christine J. Ko ORCID,Peggy Myung ORCID

Live enrichment

PubMed:35972041 PMC:PMC9669121

National Institutes of Health

Grant: R01 AR071491

NHGRI NIH HHS

Grant: U54 HG006504

NCATS NIH HHS

Grant: UL1 TR001863

National Institutes of Health

Grant: 5R01AR071491-05

Genetics and Pathobiology of Cutaneous Mosaic Disorders

National Institutes of Health

Grant: 1U54HG006504-01

Yale Center for Mendelian Disorders

greenLicense: Wiley Online Library User Agreement

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/9669121

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62951

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.62951

https://doi.org/10.1002/ajmg.a.62951

https://pubmed.ncbi.nlm.nih.gov/35972041

Fields of Study

03 medical and health sciences0302 clinical medicine

MeSH Terms

Hair FollicleHumansHamartomaSkin NeoplasmsSkin DiseasesHedgehog ProteinsSmoothened ReceptorBasal Cell Carcinoma

Keywords

MosaicismBasal Cell CarcinomaGenetic Skin DiseaseSkin NeoplasmsHamartomaHumansHedgehog ProteinsHair FollicleSkin DiseasesSmoothened Receptor

Segmental basaloid follicular hamartomas derive from a post‐zygotic SMO p.L412F pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas

FAIR Checklist

Authors (7)

Funding (5 grants)

Open Access

Topics

Annotations (Europe PMC)