Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Kunstmann, Erdmut"'
Autor:
Freiberg, Florentina Joyce, Kunstmann, Erdmute, König, Thomas, Matlach, Juliane, Kampik, Daniel
Publikováno v:
GMS Ophthalmology Cases, Vol 6, p Doc09 (2016)
Background: To present a case of conjunctival lymphangioma in a girl with tuberous sclerosis complex.Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like dila
Externí odkaz:
https://doaj.org/article/000b7cb3423e4aa5a35b8d16d7a95895
Autor:
Bisschoff, Izak J, Zeschnigk, Christine, Horn, Denise, Wellek, Brigitte, Rieß, Angelika, Wessels, Maja, Willems, Patrick, Jensen, Peter, Busche, Andreas, Bekkebraten, Jens, Chopra, Maya, Hove, Hanne Dahlgaard, Evers, Christina, Heimdal, Ketil, Kaiser, Ann-Sophie, Kunstmann, Erdmut, Robinson, Kristina Lagerstedt, Linné, Maja, Martin, Patricia, McGrath, James, Pradel, Winnie, Prescott, Trine E, Roesler, Bernd, Rudolf, Gorazd, Siebers-Renelt, Ulrike, Tyshchenko, Nataliya, Wieczorek, Dagmar, Wolff, Gerhard, Dobyns, William B., Morris-Rosendahl, Deborah J
OFD1, now recognized as a ciliopathy, is characterized by malformations of the face, oral cavity and digits, and is transmitted as an X-linked condition with lethality in males. Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b89522f218df39cf1cfa2cabdf452f6f
https://europepmc.org/articles/PMC5497464/
https://europepmc.org/articles/PMC5497464/
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