The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18

Human Mutation

Volumn 34, Issue 9, 2013, Pages 1195-1199

  Aldahmesh, Mohammed A ^a   Alshammari, Muneera J ^a,b   Khan, Arif O ^a,c   Mohamed, Jawahir Y ^a   Alhabib, Fatimah A ^a   Alkuraya, Fowzan S ^a,d  

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

^b KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^c KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

ADAMTS18; Exome; Knobloch; Linkage; Ocular syndrome

Indexed keywords

ADAMTS18 PROTEIN; METALLOPROTEINASE; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; EXOME; EYE DISEASE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MICROCORNEA MYOPIC CHORIORETINAL ATROPHY AND TELECANTHUS; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 84881616452     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22374     Document Type: Article

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