ECEL1 mutation causes fetal arthrogryposis multiplex congenita

American Journal of Medical Genetics, Part A

Volumn 167, Issue 4, 2015, Pages 731-743

  Dohrn, N ^a   Le, V Q ^a   Petersen, A ^a   Skovbo, P ^a   Pedersen, I S ^a   Ernst, A ^a   Krarup, H ^a   Petersen, M B ^a,b  

^a AALBORG UNIVERSITY HOSPITAL   (Denmark)

^b AALBORG UNIVERSITY   (Denmark)

Author keywords

Arthrogryposis multiplex congenita; Central nuclei; ECEL1; Fetus; Whole exome sequencing

Indexed keywords

DNA; GLYCOGEN; MISOPROSTOL; ECEL1 PROTEIN, HUMAN; METALLOPROTEINASE;

ADULT; ARTHROGRYPOSIS; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE INHERITANCE; BIOPSY TECHNIQUE; CASE REPORT; CELL CULTURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONSANGUINITY; COPY NUMBER VARIATION; DNA EXTRACTION; ECEL1 GENE; ELBOW FLEXION; ELECTRON MICROSCOPY; EXON; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS KARYOTYPING; FETUS MOVEMENT; FIBROBLAST; FOOT; GENE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GESTATIONAL AGE; HIP; HISTOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; KNEE FUNCTION; MISSENSE MUTATION; NUCHAL TRANSLUCENCY MEASUREMENT; PREGNANCY TERMINATION; PRIORITY JOURNAL; RISK ASSESSMENT; SEQUENCE ALIGNMENT; SUDAN; THREE DIMENSIONAL IMAGING; TRINUCLEOTIDE REPEAT; VACUUM EXTRACTION; YOUNG ADULT; ABORTION; AMINO ACID SEQUENCE; CHEMISTRY; ECHOGRAPHY; FATALITY; GENETICS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE;

ABORTION, EUGENIC; AMINO ACID SEQUENCE; ARTHROGRYPOSIS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; METALLOENDOPEPTIDASES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; ULTRASONOGRAPHY, PRENATAL;

EID: 84925742752     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37018     Document Type: Article

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