Mild clinical presentation of a patient with a mutation in the NSDHL gene-Reference-Cited by-同舟云学术

Mild clinical presentation of a patient with a mutation in the NSDHL gene

Published:2018-11-28 Issue:4 Volume:44 Page:456-458
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Ormerod E.¹^ORCID,Bownass L.²,Smithson S.²,Zhang Y.³,Dunnill M. G. S.¹

Affiliation:

1. Bristol Dermatology Department Bristol Royal Infirmary Bristol UK

2. Clinical Genetics Department St Michael's Hospital Bristol UK

3. Histopathology Department North Bristol NHS Trust Bristol UK

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ced.13845

Reference6 articles.

1. Du SouichC RaymondL GrzeschikKJ BoerkoelCF.NSDHL‐related disorders. Available at:https://www.ncbi.nlm.nih.gov/books/NBK51754/(accessed 6 August 2018).

2. Mutational spectrum of NSDHL in CHILD syndrome

3. Pathogenesis-Based Therapy Reverses Cutaneous Abnormalities in an Inherited Disorder of Distal Cholesterol Metabolism

4. CHILD Syndrome Caused by a Deletion of Exons 6–8 of the NSDHL Gene

5. X-chromosome inactivation: role in skin disease expression

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1. Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review;Molecular Genetics & Genomic Medicine;2022-12-11

2. A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement;Molecular Genetics & Genomic Medicine;2021-12-26