CHRNG cDNA ORF clone, Homo sapiens(human)

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.
Kariminejad A, Almadani N, Khoshaeen A, Olsson B, Moslemi AR, Tajsharghi H
BMC genetics17(1)71(2016 05)

Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.
Sung KH, Lee SH, Kim N, Cho TJ
Journal of pediatric orthopedics. Part B24(3)262-7(2015 May)

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
Seo J, Choi IH, Lee JS, Yoo Y, Kim NK, Choi M, Ko JM, Shin YB
Journal of human genetics60(4)213-5(2015 Apr)

Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.
Kodaganur SG, Tontanahal SJ, Sarda A, Shah MH, Bhat V, Kumar A
Clinical dysmorphology22(2)54-8(2013 Apr)

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, H?hn R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, M?kel? KM, Lehtim?ki T, K?h?nen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, P?rssinen O, Wedenoja J, Yip SP, Ho DW, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA, , Chen P, Li R, Liao J, Zheng Y, Ong RT, D?ring A, , Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W, , Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasatian S, Janmahasathian S, Igo RP Jr, Lass JH, Chew E, Iyengar SK, , Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, M?ller C, Uitterlinden AG, Rivadeneira F, Vingerling JR, Hofman A, Oostra BA, Amin N, Bergen AA, Teo YY, Rahi JS, Vitart V, Williams C, Baird PN, Wong TY, Oexle K, Pfeiffer N, Mackey DA, Young TL, van Duijn CM, Saw SM, Bailey-Wilson JE, Stambolian D, Klaver CC, Hammond CJ
Nature genetics45(3)314-8(2013 Mar)

CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome
Title: Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene were identified.
Title: Orthopaedic manifestations and treatment outcome of two siblings with Escobar syndrome and homozygous mutations in the CHRNG gene.

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
Title: Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

No mutations were found in CHRNG, CHRND and CHRNA1 genes of Indian families with Escobar syndrome.
Title: Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome.

We did not identify a clear difference in mutation spectrum of the CHRNG gene between lethal form and non-lethal forms of multiple pterygium syndromes
Title: CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.