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- Gain‐of‐function variants in the <i>ODC1</i> gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
- Atractylodes macrocephala Koidz. Stimulates Dermal Papilla Cells to Promote Anagen Entry Associated with GSK3β/β-Catenin Signaling
- Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
- Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
- Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
- Unruly hair
- Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
- Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
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