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

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

<p dir="ltr">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 trea...

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Bibliographic Details
Main Author: Ayat Kadhi (18281710) (author)
Other Authors: Lamiaa Hamie (18281713) (author), Christel Tamer (18281716) (author), Georges Nemer (295984) (author), Mazen Kurban (122847) (author)
Published: 2022
Subjects:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
Scalp alopecia
Diffused hair loss
Hair shaft thinning
Nonsyndromic hypotrichosis
Heredity hypotrichosis simplex (HHS)
Autosomal recessive inheritance
Corneodesmosin (CDSN) gene
CDH3 gene
Whole-exome sequencing (WES)
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