A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

Ellis-van Creveld syndrome (EvC MIM. #225500) is an autosomal recessive skeletal dysplasia characterised by thoracic hypoplasia, cardiac anomalies, acromesomelic limb shortening, and postaxial polydactyly. Affected individuals commonly manifest with cardiorespiratory failure as neonates but generall...

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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genome Var
Auteurs principaux: Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Tsurusaki, Yoshinori, Kuroda, Yukiko, Ishikawa, Hiroshi, Ohyama, Makiko, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2019
Sujets:
Data Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6804659/
https://ncbi.nlm.nih.gov/pubmed/31645978
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0071-9
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