Huriez syndrome: Additional pathogenic variants supporting allelism to <scp>SMARCAD</scp> syndrome-Reference-Cited by-同舟云学术

Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome

Published:2022-02-25 Issue:6 Volume:188 Page:1752-1760
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:

Loh Abigail Y. T.¹²,Špoljar Sanja³,Neo Granville Y. W.¹,Escande‐Beillard Nathalie¹²⁴,Leushacke Marc⁵,Luijten Monique N. H.²,Venkatesh Byrappa²,Bonnard Carine⁵,Steensel Maurice A. M.⁵⁶,Hamm Henning⁷,Carmichael Andrew⁸,Rajan Neil⁹^ORCID,Carney Thomas J.²⁶^ORCID,Reversade Bruno¹²⁴^ORCID

Affiliation:

1. Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore (GIS) Agency for Science, Technology and Research (A*STAR) Singapore

2. Institute of Molecular and Cell Biology (IMCB), Agency for Science, Technology and Research (A*STAR) Singapore

3. Department for Dermatovenereology University Hospital Center “Sestre Milosrdnice” Zagreb Croatia

4. Medical Genetics Department, School of Medicine Koç University Istanbul Turkey

5. Skin Research Institute of Singapore (SRIS), Agency for Science, Technology and Research (A*STAR) Singapore

6. Lee Kong Chian School of Medicine, Experimental Medicine Building, Yunnan Garden Campus Nanyang Technological University Singapore

7. Department of Dermatology, Venereology and Allergology University Hospital Wuerzburg Wuerzburg Germany

8. Department of Dermatology James Cook University Hospital Middlesbrough UK

9. Translational and Clinical Research Institute, Centre for Life Newcastle University Newcastle upon Tyne UK

Funder

NIHR Newcastle Biomedical Research Centre

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62703

Reference33 articles.

1. A dyadic approach to the delineation of diagnostic entities in clinical genomics

2. A Rare Syndrome Resembling Scleroderma: Huriez Syndrome

3. Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964)

4. The yeast Fun30 and human SMARCAD1 chromatin remodellers promote DNA end resection

5. Keratoderma with scleroatrophy of the extremities or sclerotylosis (Huriez syndrome): a reappraisal

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