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Abbreviation : DA
Long Form : distal arthrogryposis
No. Year Title Co-occurring Abbreviation
2020 Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B. MYH3
2019 Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D). AMC, WES
2019 Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family. DA5
2018 Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. LOD, RFLP, WES
2018 Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I. AD, HSP
2017 A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I. ---
2017 Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders. ---
2016 A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1. ---
2016 Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. ---
10  2016 ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis. DINE, ECEL1, KI
11  2016 Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone. NALCN
12  2015 A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation. ---
13  2015 AMC: amyoplasia and distal arthrogryposis. AMC, ROM
14  2015 De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. DA2A
15  2014 Anesthetic considerations in Sheldon-Hall syndrome. DA2A, SHS
16  2014 Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. ---
17  2014 Genotype-phenotype relationships in Freeman-Sheldon syndrome. ---
18  2014 Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. ---
19  2013 Mutations in ECEL1 cause distal arthrogryposis type 5D. DA5D, ECEL1
20  2013 Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. ---
21  2013 The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. AMC, ECEL1
22  2011 A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. FSS, MYBPC1, MYH3, SHS, TNNI2, TNNT3, TPM2
23  2011 Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot. NHW
24  2008 Distal arthrogryposis syndrome. ---
25  2007 Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. TM
26  2006 A new distal arthrogryposis syndrome characterized by plantar flexion contractures. DA10
27  2006 A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. DA1, DA2B
28  2006 A TNNI2 mutation in a family with distal arthrogryposis type 2B. DeltaE167
29  2006 Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. TPS
30  2004 Distal arthrogryposis type IIB: unreported ophthalmic findings. ---
31  2000 Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis? ---
32  1992 Prenatal diagnosis of distal arthrogryposis type I by ultrasonography. ---