Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions-Reference-Cited by-同舟云学术

Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions

Published:2019-09-30 Issue:12 Volume:179 Page:2469-2473
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Atzmony Lihi¹²³^ORCID,Zaki Theodore D.¹^ORCID,Antaya Richard J.¹,Choate Keith A.¹²⁴^ORCID

Affiliation:

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

2. Department of Genetics Yale University School of Medicine New Haven Connecticut

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

4. Department of Pathology Yale University School of Medicine New Haven Connecticut

Funder

National Human Genome Research Institute

National Institute of Arthritis and Musculoskeletal and Skin Diseases

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61362

Reference16 articles.

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

3. Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

4. Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

5. Melanosome uptake is associated with the proliferation and differentiation of keratinocytes

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