An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

Author:

Zlotogorski Abraham,Marek Dina,Horev Liran,Abu Almogit,Ben-Amitai Dan,Gerad Liora,Ingber Arieh,Frydman Moshe,Reznik-Wolf Haike,Vardy Daniel A.,Pras Elon

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference19 articles.

1. Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats;Bazzi;J Investig Dermatol Symp Proc,2005

2. Erstmaliger Hinweis auf das Vorkommen eines monohybridrezessiven Erbgangs bei Monilethrix (Moniletrichosis);Hanhart;Arch Klaus Stift Vererbungsforsch,1955

3. De novo mutations in monilethrix;Horev;Exp Dermatol,2003

4. Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6;Horev;Hum Hered,2000

5. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene;Jahoda;Genomics,2004

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1. A nonsense variant in KRT31 is associated with autosomal dominant monilethrix;British Journal of Dermatology;2024-07-19

2. Ausgewählte Genodermatosen – Stand der Dinge und Zukunftsaussichten;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2023-04

3. Selected genodermatoses – Status quo and future prospects;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2023-03-28

4. Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families;Molecular Genetics & Genomic Medicine;2022-02-11

5. Mode of inheritance for hypotrichosis in families of Sahiwal Division, Punjab, Pakistan;Biomedical Letters;2022-01-28

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