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Last Updated: 10/31/2025
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Found 96 publications
X-linked dominant chondrodysplasia punctata due to novel mutation in EBP gene: A case report.
Journal: Medicine
Published: April 07, 2025
Early Skin Biopsy in Conradi-Hünermann-Happle Syndrome (X-Linked Dominant Chondrodysplasia Punctata).
Journal: Journal of cutaneous pathology
Published: September 04, 2024
X-linked genodermatoses from diagnosis to tailored therapy.
Journal: La Clinica terapeutica
Published: November 23, 2023
Ichthyotic skin lesions of Conradi-Hünermann-Happle syndrome successfully treated with dupilumab.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: January 04, 2023
Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.
Journal: Pediatric dermatology
Published: May 04, 2022
Conradi-Hünermann-Happle syndrome with minimal signs.
Journal: Pediatric dermatology
Published: November 08, 2021
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
Journal: Journal of human genetics
Published: September 08, 2021
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.
Journal: Journal of inherited metabolic disease
Published: March 31, 2020
Genetics of Inherited Ichthyoses and Related Diseases.
Journal: Acta dermato-venereologica
Published: March 10, 2020
Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus.
Journal: Frontiers in genetics
Published: February 07, 2020
Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.
Journal: American journal of medical genetics. Part A
Published: February 14, 2019
Lichenoid folliculitis of the scalp in four patients with ichthyosiform skin disorders and cicatricial alopecia.
Journal: Journal of cutaneous pathology
Published: July 03, 2018
Last Updated: 10/31/2025