Results 51 to 60 of about 6,674 (213)
Despite the hair failing, nails thrive…
Indian Journal of Paediatric Dermatology, 2017 Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth.
Samipa Samir Mukherjee +1 more
doaj +1 more source
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
PLoS Genetics, 2020 Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis ...
Yoichi Wada +18 more
doaj +1 more source
A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis [PDF]
, 1996 6 páginas, 2 figuras.A newly defined form of inherited hair loss, named localized autosomal recessive hypotrichosis (LAH, OMIM 607903), was recently described in the literature (Kljuic et al. 2003a; Rafique et al.
Moss, Celia +5 more
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Journal of Small Animal Practice, EarlyView.Objectives This study aimed to assess the effectiveness of a protocol involving the application of topical products (DOUXO® S3 SEB Shampoo and Mousse; Ceva Santé Animale) containing ophytrium for managing feline keratinisation disorders. Materials and Methods Nineteen client‐owned cats with a history of keratinisation disorders exhibited greasy or dry ...
C. Noli +10 more
wiley +1 more source
Woolly hair nevus: case report and review of literature [PDF]
, 2020 Woolly hair nevus consists of a patch of curly and hypopigmented hair that is restricted to an area of the scalp. It is usually benign but it can be associated with other systemic findings.
Gomes, Tiago Fernandes +2 more
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Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
The human SOX18 gene: Expression analysis and characterization of its 5’ flanking region [PDF]
, 2007 The aim of this study was to establish an adequate in vitro model system for studying transcriptional regulation of the human SOX18 gene. The paper presents an analysis of expression of this gene in cultured cell lines and characterization of its 5 ...
Petrović Isidora, Stevanović Milena
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Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands. Dental manifestations such as anodontia or hypodontia can significantly impair mastication, speech development, facial esthetics, and psychosocial well‐being ...
Nazera Ahmadzai +5 more
wiley +1 more source
Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]
, 2014 Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V +2 more
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Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
wiley +1 more source