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Uitto, Jouni
One or more keywords matched the following items that are connected to
Uitto, Jouni
Item Type
Name
Concept
Ectodermal Dysplasia
Academic Article
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
Academic Article
Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.
Academic Article
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Academic Article
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
Search Criteria
Ectodermal Dysplasia