Title: | Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation |
Journal : | European journal of medical genetics, 60, 7 |
Authors: | Quélin C, Author ; Loget P ; Rozel C ; D'Hervé D ; Fradin M ; Demurger F ; Odent S ; Pasquier L ; Cavé H ; Marcorelles P |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 395 |
Languages: | English |
Keywords : | arthrogryposis ; case studies ; congenital diseases ; congenital myopathy ; face deformities ; fetal diseases ; genetic mutations ; multiple deformities ; muscle histopathology ; neuromuscular spindles ; RAS gene ; syndrome de Costello |
Keywords: | Arthrogryposis;Costello;Fetal;HRAS gene;Neuromuscular disorder; |
Pubmed / DOI : | DOI : 10.1016/j.ejmg.2017.03.014 / Pubmed : 28455154 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28455154 |
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