A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia

We described a heterozygous de novo mutation (G434V) in the frizzled class receptor 2 (FZD2) gene in a patient with distinct facial features including hypertelorism, bilateral cleft lip/palate, short nose with a broad nasal bridge, microretrognathia, and bilateral shortness of the upper limbs, first...

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Bibliografiset tiedot
Julkaisussa:Mol Syndromol
Päätekijät: Türkmen, Seval, Spielmann, Malte, Güneş, Nilay, Knaus, Alexej, Flöttmann, Ricarda, Mundlos, Stefan, Tüysüz, Beyhan
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: S. Karger AG 2017
Aiheet:
Novel Insights from Clinical Practice
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5701278/
https://ncbi.nlm.nih.gov/pubmed/29230162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000479721
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