Hypertrichosis | List of Frontiers open access articles

Case Report

Published on 03 Dec 2021

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

in Genetics of Common and Rare Diseases

Gabriella Doddato
Alessandra Fabbiani
Chiara Fallerini
Mirella Bruttini
Theodora Hadjistilianou
Martino Landi
Caterina Coradeschi
Salvatore Grosso
Barbara Tomasini
Maria Antonietta Mencarelli

Frontiers in Genetics

doi 10.3389/fgene.2021.761264

4,085 views
7 citations

Review

Published on 21 Jan 2026

Expanding the therapeutic landscape of minoxidil for androgenetic alopecia: topical, oral and sublingual formulations

in Integrative and Regenerative Pharmacology

Flavia Rodrigues Dias
Shin Shen Yong
Holly FitzGerald
Rodney D. Sinclair
Bevin Bhoyrul

Frontiers in Pharmacology

doi 10.3389/fphar.2025.1718208

2,235 views

Case Report

Published on 06 Mar 2024

Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review

in Neurogenomics

Fengji Cui
Tuoya Wulan
Qian Zhang
Victor Wei Zhang
Yuhua Jiang

Frontiers in Genetics

doi 10.3389/fgene.2024.1371282

4,813 views
1 citation

Case Report

Published on 11 Aug 2021

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing

in Genetics of Common and Rare Diseases

Jie-Yuan Jin
Lei Zeng
Bing-Bing Guo
Yi Dong
Ju-Yu Tang
Rong Xiang

Frontiers in Genetics

doi 10.3389/fgene.2021.705973

4,165 views
4 citations

Original Research

Published on 31 Mar 2025

De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis

in Computational Genomics

Hong-Jun Yan
Wen-Hui Liu
Min-Xing Xu
Peng-Yu Wang
Yu-Jie Gu
Hua Li
Jing Guo
Sheng Luo

Frontiers in Genetics

doi 10.3389/fgene.2025.1499716

2,928 views
4 citations

Original Research

Published on 08 Jul 2020

Clinical and Biochemical Characteristics of Severe Hypothyroidism Due to Autoimmune Thyroiditis in Children

in Pediatric Endocrinology

Anna Małgorzata Kucharska
Ewelina Witkowska-Sȩdek
Dominika Labochka
Małgorzata Rumińska

Frontiers in Endocrinology

doi 10.3389/fendo.2020.00364

10,134 views
16 citations

Original Research

Published on 21 Aug 2025

Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers

in Pediatric Endocrinology

Tai L. S. Pasquini
Kristen E. Rohli
Fiona J. Almeida
Indraneel Banerjee
Antonia Dastamani
Diva D. De Leon
Lauren N. Lopez
Paul S. Thornton
Julie Raskin

Frontiers in Endocrinology

doi 10.3389/fendo.2025.1628125

5,574 views

Articles

Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

Expanding the therapeutic landscape of minoxidil for androgenetic alopecia: topical, oral and sublingual formulations

Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing

De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis

Clinical and Biochemical Characteristics of Severe Hypothyroidism Due to Autoimmune Thyroiditis in Children

Real-world experience with the use of diazoxide among people living with congenital hyperinsulinism and their caregivers