Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study, researchers examined two new cases of trichothiodystrophy and observed that the condition is linked to decreased synthesis of high-sulfur matrix proteins in hair.

This case report of an infant with AEC syndrome highlights the importance of early and aggressive management of ocular complications to preserve vision and reduce the risk of amblyopia.

This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.

This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.