Arthrogryposis multiplex congenita
Definition:
References:
-
[1]. E Reinstein, et al. Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type. Clin Genet. 2018 Jan;93(1):160-163. [Content Brief]
[2]. Esra Isik, et al. Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping. Eur J Med Genet. 2019 Sep;62(9):103544. [Content Brief]
[3]. Lulu Ma, et al. Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia. Front Med. 2017 Mar;11(1):48-52. [Content Brief]
[4]. Michal Feingold-Zadok, et al. Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita. Prenat Diagn. 2017 Feb;37(2):144-150. [Content Brief]
[5]. Mohammed Zain Seidahmed, et al. Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans. Hum Genet. 2020 Apr;139(4):513-519. [Content Brief]
[6]. Ruben Attali, et al. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 2009 Sep 15;18(18):3462-9. [Content Brief]
[7]. Shifeng Xue, et al. Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. Am J Hum Genet. 2017 Apr 6;100(4):659-665. [Content Brief]
Molarity Calculator
Dilution Calculator
