Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.
Valenzuela, Irene; Fernández-Alvarez, Paula; Munell, Francina; Sanchez-Montanez, Angel; Giralt, Gemma; Vendrell, Teresa; Tizzano, Eduardo F.
Eur J Med Genet
; 60(6): 303-307, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28344185
Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease.
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Background to the 2nd International Symposium on Arthrogryposis.
Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17-19, 2014.
Genetics and Classifications.
De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features.
Response to "De novo mutation of the TGFB3 latency-associated peptide domain in a patient with overgrowth and Loeys-Dietz syndrome features".
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).