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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
Author(s) -
Milovidova T.B.,
Schagina O.A.,
Freire M.V.,
Demi.A.,
Filatova A.Y.,
Skoblov M.Y.,
Stepanova A.A.,
Chuhrova A.L.,
Polyakov A.V.
Publication year - 2019
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/jdv.15798
Subject(s) - institution , state (computer science) , medical genetics , library science , political science , medicine , genetics , law , biology , algorithm , computer science , gene
The proband's examination revealed a large forehead with prominent supraorbital ridges and forehead bumps, wide cheekbones, small saddle-shaped nose with hypoplastic alae nasi, narrow and short maxillary regions, slightly deformed ears. The hair, eyebrows and eylashes were light-coloured, sparce and brittle. The skin was dry and pale. However, according to the mother, the proband had good heat tolerance. Examination revealed hypoplastic nipples, but nail structure was normal. This article is protected by copyright. All rights reserved.