Associated Papers
Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.
Del Río-Martínez CJ et al.
Pediatric Dermatology, 2023
Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations.
Takeichi T et al.
The British Journal of Dermatology, 2018
TM6SF2 and MAC30, new enzyme homologs in sterol metabolism and common metabolic disease.
Sanchez-Pulido L et al.
Frontiers in Genetics, 2014
Conradi-Hünermann-Happle syndrome: a novel heterozygous missense mutation, c.204G>T (p.W68C).
Lambrecht C et al.
Pediatric Dermatology, 0
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