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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Hum Genome Var
मुख्य लेखकों: Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Tsurusaki, Yoshinori, Kuroda, Yukiko, Ishikawa, Hiroshi, Ohyama, Makiko, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group UK 2019
विषय:
Data Report
ऑनलाइन पहुंच: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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