research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
Search
for
Sort by
Research
990-1000 / 1000+ results
research 085 Autoantigen screening in C3H/HeJ mouse model of alopecia areata revealed high antigenicity of melanocyte-associated antigen epitopes
Melanocyte-associated antigens may play a key role in alopecia areata and could be targets for new treatments.
research Uncombable hair (pili trianguli et Canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy
Uncombable hair is inherited dominantly with complete penetrance.
research Eosinophilic granulomas in two dogs
Two dogs in Korea were diagnosed with a rare skin condition usually seen in cats.
research Equine antral follicle containing cartilage and bone: ovarian teratoma
A mare had a functional ovary with a tumor containing cartilage and bone.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Pigmented Rings With Central Clearing: A Dermoscopic Feature of Melasma
Pigmented rings with central clearing help diagnose melasma more accurately.
research BH21 Segmented heterochromia with calibre change: an under-recognized sign of alopecia areata
Segmented hair color changes can indicate active alopecia areata.