Výsledky vyhledávání - "May-Britt Harmsen"

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap

Autor: Kerstin Kutsche, Dagmar Wieczorek, M Mar García González, Silvia Azzarello-Burri, Christiane Spaich, May-Britt Harmsen, Anita Rauch, Martin Zenker, Dietmar Müller, Peter Meinecke, Eva Seemanova, Eva Rossier, Bernhard Steiner, Gabriele Gillessen-Kaesbach

Publikováno v: European Journal of Human Genetics. 17:1207-1215

Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61b484445ffd0e320c88fc69c548a35c
https://doi.org/10.1038/ejhg.2009.40

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Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I

Autor: Maria Cristina Fertz, Kerstin Kutsche, Sergio Demarini, May Britt Harmsen, Antonella Fabretto, Martin Zenker, Paolo Gasparini

Publikováno v: European journal of medical genetics. 53(5)

Noonan syndrome (NS) is an autosomal dominant, inherited disorder characterized by facial dysmorphism, congenital heart defects, and reduced postnatal growth. Dysregulated RAS-MAPK signalling is the common molecular basis for NS, a genetically hetero

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46df0d1384ab85506bc1f38662e972e3
https://pubmed.ncbi.nlm.nih.gov/20673819

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