A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures

Gene

Volumn 527, Issue 2, 2013, Pages 630-635

  Li, Xuefu ^a   Jiang, Miao ^a   Han, Weitian ^a   Zhao, Ning ^a   Liu, Wei ^a   Sui, Yu ^a   Lu, Yongping ^a   Li, Jianxin ^b  

^a Key Laboratory of Reproductive Health of Liaoning Province   (China)

^b Research Institute of Family Planning of Liaoning Province   (China)

Author keywords

Distal arthrogryposis; Freeman Sheldon syndrome; Mutation; Somatic mosaicism; TNNI2

Indexed keywords

MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 3; TROPONIN I; TROPONIN I2; TROPONIN T; TROPONIN T3; UNCLASSIFIED DRUG;

ADULT; ARTHROGRYPOSIS; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTRACTURE; CONTROLLED STUDY; DISTAL ARTHROGRYPOSIS; FACIAL CONTRACTURE; FEMALE; FREEMAN SHELDON SYNDROME; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; HUMAN CELL; MALE; MICROSATELLITE MARKER; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION;

A; ADENOSINE; BASE PAIR(S); BP; DA; DA1 (2B/2A); DAS; DISTAL ARTHROGRYPOSES; DISTAL ARTHROGRYPOSIS; DISTAL ARTHROGRYPOSIS TYPE 1 (2B/2A); FREEMAN-SHELDON SYNDROME; FSS; HOMO SAPIENS EMBRYONIC MYOSIN HEAVY CHAIN 3 GENE; HOMO SAPIENS MYOSIN BINDING PROTEIN C SLOW TYPE GENE; HOMO SAPIENS TROPOMYOSIN 2 GENE; HOMO SAPIENS TROPONIN I TYPE 2 GENE; HOMO SAPIENS TROPONIN T TYPE 3 GENE; MUTATION; MYBPC1; MYH3; PAGE; POLYACRYLAMIDE GEL ELECTROPHORESIS; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RFLP; SHELDON-HALL SYNDROME; SHS; SOMATIC MOSAICISM; T; THYMIDINE; TNNI2; TNNT3; TPM2;

ADULT; CHINA; CHROMOSOME MAPPING; CONTRACTURE; CRANIOFACIAL DYSOSTOSIS; FACE; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; TROPONIN I;

EID: 84881547650     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.06.082     Document Type: Article

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