Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes

Clinical Genetics

Volumn 85, Issue 6, 2014, Pages 562-567

  Shaaban, S ^a,b,c,d,e,f   Duzcan, F ^g   Yildirim, C ^h   Chan, W M ^a,c,i   Andrews, C ^a,b,e,i   Akarsu, N A ^j   Engle, E C ^{a,b,c,d,e,g,i,k}  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b FM Kirby Neurobiology Center   (United States)

^c Program in Genomics   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f Dubai Harvard Foundation for Medical Research   (United States)

^g Department of Medical Genetics ^*  (Turkey)

^h PAMUKKALE UNIVERSITY   (Turkey)

ⁱ HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^j HACETTEPE UNIVERSITY   (Turkey)

^k BROAD INSTITUTE OF MIT AND HARVARD   (United States)

more..

Author keywords

Arthrogryposis; Camptodactyly; Contractures; Ophthalmoplegia

Indexed keywords

ENDOTHELIN CONVERTING ENZYME; ECEL1 PROTEIN, HUMAN; METALLOPROTEINASE;

ADULT; ARTHROGRYPOSIS; ARTICLE; ASTIGMATISM; CAMPTODACTYLY; CHILD; CLINICAL ARTICLE; FEMALE; FLEXION CONTRACTURE; GENE SEQUENCE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; KNEE FUNCTION; MALE; MISSENSE MUTATION; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS; REFRACTION ERROR; SCOLIOSIS; CONSANGUINITY; DNA SEQUENCE; EXOME; GENETICS; GENOTYPE; HOMOZYGOTE; PATHOLOGY; PEDIGREE; PHENOTYPE; TURKEY;

ADULT; ARTHROGRYPOSIS; CONSANGUINITY; EXOME; FEMALE; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; METALLOENDOPEPTIDASES; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TURKEY;

EID: 84899484124     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12224     Document Type: Article

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