Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D

Clinical Genetics

Volumn 85, Issue 6, 2014, Pages 568-572

  Shaheen, R ^a   Al Owain, M ^b   Khan, A O ^a,c   Zaki, M S ^d   Hossni, H A A ^e   Al Tassan, R ^f   Eyaid, W ^f   Alkuraya, F S ^a,g  

^a Department of Genetics ^*  (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^d NATIONAL RESEARCH CENTRE   (Egypt)

^e National Institute of Neuromotor System Giza   (Egypt)

^f KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^g ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Arthrogryposis; Autozygosity; ECEL1; Ptosis

Indexed keywords

DIPEPTIDYL CARBOXYPEPTIDASE; ENDOTHELIN CONVERTING ENZYME; ENDOTHELIN CONVERTING ENZYME LIKE 1; UNCLASSIFIED DRUG; ECEL1 PROTEIN, HUMAN; METALLOPROTEINASE;

ADOLESCENT; ADULT; ARTHROGRYPOSIS; ARTICLE; CHILD; CLINICAL ARTICLE; EXOME; FAMILY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; STRABISMUS; ALLELE; AMINO ACID SEQUENCE; CONSANGUINITY; GENETICS; GENOTYPE; HOMOZYGOTE; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; SAUDI ARABIA;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SEQUENCE; ARTHROGRYPOSIS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; EXOME; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; METALLOENDOPEPTIDASES; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SAUDI ARABIA;

EID: 84899474532     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12226     Document Type: Article

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