Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Plastic Surgery"
DOI: 10.1097/sap.0000000000000933
Abstract: Abstract Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well… read more here.
Keywords: patients ectodermal; individualized plastic; dysplasia syndrome; plastic reconstruction ... See more keywords
Novel GJA1/Cx43 Variant Associated With Oculo-Dento-Digital Dysplasia Syndrome: Clinical Phenotype and Cellular Mechanisms
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DOI: 10.3389/fgene.2020.604806
Abstract: Oculodentodigital dysplasia syndrome is associated with numerous pathogenic variants in GJA1, the gene encoding connexin43 gap junction protein. A novel in-frame deletion (p.Lys134del) was found in our clinic. The patient showed all the typical dysmorphic… read more here.
Keywords: cx43 variant; gja1 cx43; dysplasia; novel gja1 ... See more keywords
MORPHOFUNCTIONAL PECULIARITIES OF THE PLACENTA IN WOMEN WITH UNDIFFERENTIATED CONNECTIVE TISSUE DYSPLASIA SYNDROME.
Sign Up to like & getrecommendations! Published in 2022 at "Wiadomosci lekarskie"
DOI: 10.36740/wlek202210128
Abstract: OBJECTIVE The aim: The impact of undifferentiated connective tissue dysplasia on the formation of the placenta. PATIENTS AND METHODS Materials and methods: The morphostructure of 50 placentas with the undifferentiated connective tissue syndrome and 50… read more here.
Keywords: women undifferentiated; dysplasia syndrome; undifferentiated connective; tissue dysplasia ... See more keywords