Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up. [PDF]
EBioMedicineVignard V +22 more
europepmc +1 more source
EHD4, ein neues Cilien-assoziiertes Protein, mit Funktionen in Testis, Haut und Niere [PDF]
, 2011 Schael, Sylvia
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Syndromes Associated with Hair Disorders.
Int J TrichologyShah MM, Dhanani S, Nair PA.
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A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene. [PDF]
Mol Genet Genomic MedTan Y +5 more
europepmc +1 more source
Case Report: A novel KRT74 variant in an eight-year-old boy with alopecia totalis successfully treated with baricitinib. [PDF]
Front Med (Lausanne)Tan Y +8 more
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Prostaglandin F<sub>2α</sub> stimulates the growth of human intermediate hair follicles in <i>ex vivo</i> organ culture with potential clinical relevance. [PDF]
Front PhysiolMiranda BH, Khidhir KG, Tobin DJ.
europepmc +1 more source
Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome. [PDF]
Rev Endocr Metab DisordPerge K +5 more
europepmc +1 more source
Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature. [PDF]
Ital J PediatrKablan A, Tasdelen E.
europepmc +1 more source
Frequency of Types of Alopecia in a Single-centre Hair Referral Clinic Over a Ten Years Period.
Int J TrichologyUribe NC +2 more
europepmc +1 more source