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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.
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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  Data: Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
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  Data: <searchLink fieldCode="AU" term="%22Kovalskaia+VA%22">Kovalskaia VA</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia. mikhailova.v.a@mail.ru.<br /><searchLink fieldCode="AU" term="%22Cherevatova+TB%22">Cherevatova TB</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Zinina+EV%22">Zinina EV</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Shagina+OA%22">Shagina OA</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Vorontsova+EO%22">Vorontsova EO</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Matyushchenko+GN%22">Matyushchenko GN</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Demina+NA%22">Demina NA</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Petukhova+MP%22">Petukhova MP</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Markova+TV%22">Markova TV</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Guseva+DM%22">Guseva DM</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Galkina+VA%22">Galkina VA</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Anisimova+IV%22">Anisimova IV</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Stepanova+AA%22">Stepanova AA</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Chuhrova+AL%22">Chuhrova AL</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Sharova+MV%22">Sharova MV</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Bostanova+FM%22">Bostanova FM</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Voskanyan+AE%22">Voskanyan AE</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Polyakov+AV%22">Polyakov AV</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Ryzhkova+OP%22">Ryzhkova OP</searchLink>; Research Centre for Medical Genetics, Moscow, 115522, Russia.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2026 Feb 05; Vol. 21 (1), pp. 45. <i>Date of Electronic Publication: </i>2026 Feb 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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