X-linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation.

Autor: Milovidova TB; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics', Moscow, Russia., Schagina OA; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics', Moscow, Russia., Freire MV; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics', Moscow, Russia., Demina NA; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics', Moscow, Russia., Filatova AY; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics', Moscow, Russia., Skoblov MY; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics', Moscow, Russia., Stepanova AA; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics', Moscow, Russia., Chuhrova AL; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics', Moscow, Russia., Polyakov AV; Federal State Budgetary Scientific Institution 'Research Centre for Medical Genetics', Moscow, Russia.
Jazyk: angličtina
Zdroj: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2019 Dec; Vol. 33 (12), pp. e468-e470. Date of Electronic Publication: 2019 Jul 30.
DOI: 10.1111/jdv.15798
Databáze: MEDLINE
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