Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1846-1849

  Barnett, Christopher P ^a   Todd, Emily J ^b,c   Ong, Royston ^b,c   Davis, Mark R ^d   Atkinson, Vanessa ^d   Allcock, Richard ^c,e   Laing, Nigel ^b,c,d   Ravenscroft, Gianina ^b,c  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d PATHWEST LABORATORY MEDICINE   (Australia)

^e ROYAL PERTH HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTHROGRYPOSIS; ARTHROGRYPOSIS TYPE 5D; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; ECEL1 GENE; EXOME; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HIP DISLOCATION; HIP MALFORMATION; HUMAN; JOINT LIMITATION; KNEE FUNCTION; MISSENSE MUTATION; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SEQUENCE ANALYSIS; WALKING DIFFICULTY; FACIES; GENETICS; HETEROZYGOTE; MUTATION; PHENOTYPE;

ECEL1 PROTEIN, HUMAN; METALLOPROTEINASE;

ARTHROGRYPOSIS; CHILD, PRESCHOOL; FACIES; FEMALE; HETEROZYGOTE; HUMANS; METALLOENDOPEPTIDASES; MUTATION; PHENOTYPE;

EID: 84902533405     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36342     Document Type: Article

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