Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype

Gene

Volumn 511, Issue 2, 2012, Pages 447-450

  Al Owain, Mohammed ^a,b   Al Dosari, Mohammed S ^a,e   Sunker, Asma ^a   Shuaib, Taghreed ^c   Alkuraya, Fowzan S ^a,b,d  

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

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^d KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^e KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

Corneal fragility; Ehlers Danlos syndrome type VI; Joint hypermobility; Scoliosis; ZNF469

Indexed keywords

COLLAGEN; DEOXYPYRIDINOLINE; DORZOLAMIDE PLUS TIMOLOL MALEATE; PYRIDINOLINE; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 469;

ADOLESCENT; ADULT; ARACHNODACTYLY; ARTICLE; BLOOD CELL COUNT; BRITTLE CORNEA SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; COLLAGEN METABOLISM; CONTROLLED STUDY; CORNEA DISEASE; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE SEVERITY; ECHOCARDIOGRAPHY; EHLERS DANLOS SYNDROME; EXON; EYE DISEASE; FAMILY; FEMALE; GENE DUPLICATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GLAUCOMA; HALLUX VALGUS; HUMAN; INTRAOCULAR HYPERTENSION; JOINT INSTABILITY; KIDNEY FUNCTION TEST; KYPHOSCOLIOSIS; LIVER FUNCTION TEST; MALE; MOLECULAR GENETICS; MUSCULOSKELETAL DISEASE; PERCEPTION DEAFNESS; PHENOTYPE; PHENYLKETONURIA; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SIBLING; SKIN DISEASE; URINALYSIS;

ADOLESCENT; ADULT; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; PHENOTYPE; TRANSCRIPTION FACTORS; YOUNG ADULT;

VALGUS;

EID: 84868205877     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.022     Document Type: Article

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