A novel pathogenic CDH3 variant underlying heredity hypotrichosis simplex detected by whole-exome sequencing (WES)—a case report

Heredity hypotrichosis simplex (HHS) is a rare nonsyndromic disease form of hypotrichosis simplex (HS) characterized by progressive hair follicle (HF) miniaturization. It is usually inherited in an autosomal dominant manner. The differential diagnosis of HHS and the treatments remain challenging des...

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Detalles Bibliográficos
Autores principales: Kadhi, Ayat, Hamie, Lamiaa, Tamer, Christel, Nemer, Georges, Kurban, Mazen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528967/
https://www.ncbi.nlm.nih.gov/pubmed/35962736
http://dx.doi.org/10.1101/mcs.a006225

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528967/
https://www.ncbi.nlm.nih.gov/pubmed/35962736
http://dx.doi.org/10.1101/mcs.a006225

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