Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies

American Journal of Medical Genetics, Part A

Volumn 176, Issue 2, 2018, Pages 359-367

  Ahmed, Atif A ^a,b   Skaria, Priya ^b   Safina, Nicole P ^a,b   Thiffault, Isabelle ^a,b   Kats, Alex ^a,b   Taboada, Eugenio ^a,b   Habeebu, Sultan ^a,b   Saunders, Carol ^a,b  

^a CHILDREN S MERCY HOSPITAL   (United States)

^b UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

Author keywords

arthrogryposis; autopsy; fetal akinesia; myopathy; whole genome sequencing

Indexed keywords

DNA;

ACTA1 GENE; AMYOPLASIA; ANASARCA; ARM; ARTHROGRYPOSIS; ARTICLE; AUTOPSY; BICD2 GENE; CASE REPORT; CLINICAL ARTICLE; CLUBFOOT; FACE DYSMORPHIA; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS HYDROPS; FLEXION CONTRACTURE; FOLLOW UP; GENE; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; JOINT CONTRACTURE; KARYOTYPE; LEG; LETHAL MULTIPLE PTERYGIUM SYNDROME; MALE; MICROGNATHIA; MUSCLE ATROPHY; MUSCLE HYPOTONIA; NEB GENE; NEMALINE MYOPATHY; NEWBORN; PLEURA EFFUSION; PRIORITY JOURNAL; SCOLIOSIS; SIBLING; STILLBIRTH; SYNDACTYLY; WEBBED NECK; WHOLE GENOME SEQUENCING; DNA MUTATIONAL ANALYSIS; FETUS DEATH; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; MUSCLE DISEASE; PHENOTYPE; PROCEDURES; PTERYGIUM;

ARTHROGRYPOSIS; AUTOPSY; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL DEATH; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUSCULAR DISEASES; PHENOTYPE; PTERYGIUM;

EID: 85039553339     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38577     Document Type: Article

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