Segmental basaloid follicular hamartomas derive from a post‐zygotic <scp>SMO</scp> p. <scp>L412F</scp> pathogenic variant and express hair follicle development‐related proteins in a pattern that distinguish them from basal cell carcinomas-Reference-Cited by-同舟云学术

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

Published:2022-08-16 Issue:12 Volume:188 Page:3525-3530
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Atzmony Lihi¹²³^ORCID,Ugwu Nelson¹,Bercovitch Lionel G.⁴,Robinson‐Bostom Leslie⁴,Ko Christine J.¹⁵,Myung Peggy¹⁵,Choate Keith A.¹⁵⁶^ORCID

Affiliation:

1. Department of Dermatology Yale University School of Medicine New Haven Connecticut USA

2. Division of Dermatology, Rabin Medical Center Petach Tikva Israel

3. Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

4. Department of Dermatology, Warren Alpert Medical School Brown University Providence Rhode Island USA

5. Department of Pathology Yale University School of Medicine New Haven Connecticut USA

6. Department of Genetics Yale University School of Medicine New Haven Connecticut USA

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

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

Reference32 articles.

1. Smoothened Variants Explain the Majority of Drug Resistance in Basal Cell Carcinoma

2. Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis

3. Expression of -Catenin, a Key Mediator of the WNT Signaling Pathway, in Basal Cell Carcinoma

4. Basaloid follicular hamartoma: Solitary and multiple types

5. Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance

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