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Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2
Suggestible evidence is provided for the involvement of duplications in MCHR2 in AA pathogenesis by a genomewide and candidate gene‐focused CNV analysis performed in a cohort of 585 patients with AA and 1340 controls of Central European origin.
Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura
- D. J. Ralser, G. Lestringant, +11 authors R. Betz
- Biology, MedicineThe British journal of dermatology
- 1 December 2017
Three novel mutations in ADAM10, encoding the disintegrin and metalloproteinase domain-containing protein 10, were identified in patients with RAK of German and Iranian/Hungarian origin and a large kindred from Balochistan, partially already described in 1994.
Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal recessive congenital ichthyosis.
- L. Hake, K. Süßmuth, +9 authors V. Oji
- MedicineJournal of the European Academy of Dermatology…
- 15 December 2021
SICI is an underestimated, milder clinical variant of ARCI including distinct features such as brachydactyly and kinking of the ears and clinical experts should be aware of these features when seeing neonates with a collodion membrane.