Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
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| Title: | Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia. |
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| Authors: | Kovalskaia VA; Research Centre for Medical Genetics, Moscow, 115522, Russia. mikhailova.v.a@mail.ru., Cherevatova TB; Research Centre for Medical Genetics, Moscow, 115522, Russia., Zinina EV; Research Centre for Medical Genetics, Moscow, 115522, Russia., Shagina OA; Research Centre for Medical Genetics, Moscow, 115522, Russia., Vorontsova EO; Research Centre for Medical Genetics, Moscow, 115522, Russia., Matyushchenko GN; Research Centre for Medical Genetics, Moscow, 115522, Russia., Demina NA; Research Centre for Medical Genetics, Moscow, 115522, Russia., Petukhova MP; Research Centre for Medical Genetics, Moscow, 115522, Russia., Markova TV; Research Centre for Medical Genetics, Moscow, 115522, Russia., Guseva DM; Research Centre for Medical Genetics, Moscow, 115522, Russia., Galkina VA; Research Centre for Medical Genetics, Moscow, 115522, Russia., Anisimova IV; Research Centre for Medical Genetics, Moscow, 115522, Russia., Stepanova AA; Research Centre for Medical Genetics, Moscow, 115522, Russia., Chuhrova AL; Research Centre for Medical Genetics, Moscow, 115522, Russia., Sharova MV; Research Centre for Medical Genetics, Moscow, 115522, Russia., Bostanova FM; Research Centre for Medical Genetics, Moscow, 115522, Russia., Voskanyan AE; Research Centre for Medical Genetics, Moscow, 115522, Russia., Polyakov AV; Research Centre for Medical Genetics, Moscow, 115522, Russia., Ryzhkova OP; Research Centre for Medical Genetics, Moscow, 115522, Russia. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Feb 05; Vol. 21 (1), pp. 45. Date of Electronic Publication: 2026 Feb 05. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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