Mapping of a novel type III variant of knobloch syndrome (KNO3) to chromosome 17q11.2

American Journal of Medical Genetics, Part A

Volumn 143, Issue 23, 2007, Pages 2768-2774

  Khaliq, Shagufta ^a   Abid, Aiysha ^a   White, Dominick R A ^b   Johnson, Colin A ^b   Ismail, Muhammad ^a   Khan, Ayesha ^c   Ayub, Qasim ^a   Sultana, Salma ^d   Maher, Eamonn R ^b   Mehdi, Syed Qasim ^a  

^a Dr A Q Khan Research Laboratories   (Pakistan)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c AL SHIFA TRUST EYE HOSPITAL   (Pakistan)

^d GC UNIVERSITY   (Pakistan)

Author keywords

17q11.2; KNO3; Knobloch syndrome; Occipital scalp defect; Vitreoretinal degeneration

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 17Q; CHROMOSOME MAP; CLINICAL EXAMINATION; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; ENCEPHALOCELE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; KNOBLOCH SYNDROME; MYOPIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DETACHMENT;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 17; ENCEPHALOCELE; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; HUMANS; LOD SCORE; MALE; MICROSATELLITE REPEATS; MUTATION; MYOPIA; PEDIGREE; RETINAL DETACHMENT; SYNDROME;

EID: 36849077694     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31739     Document Type: Article

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