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L.M. Borrel
L.M. Borrel
Biology
Genetics
Autistic features
Arthrogryposis
Mutation
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A novel mutation in the MAGEL2 gene in a patient with arthrogryposis, severe global developmental delay and autistic features
2018
Neuromuscular Disorders
Didem Ardicli
I. Zaharieva
R. Phadke
M. Scoto
L.M. Borrel
S Laurie
S.B. Agullo
A. Sarkozy
Francesco Muntoni
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