Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes.

Barber, John C K

Barber, John C K.

Affiliation

Barber JCK; Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, United Kingdom.

Am J Med Genet A ; 176(9): 2034-2036, 2018 09.

Article in En | MEDLINE | ID: mdl-30055074

Subject(s)

Chromosomes, Human, Pair 4; DNA Copy Number Variations; Ear/abnormalities; Eye Abnormalities/diagnosis; Eye Abnormalities/genetics; Genetic Association Studies; Homeodomain Proteins/genetics; Phenotype; Genetic Association Studies/methods; Humans

Key words

4p16.1; HMX1; copy number variation; euchromatic variant; evolutionarily conserved region; oculoauricular phenotypes

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Chromosomes, Human, Pair 4 / Eye Abnormalities / Homeodomain Proteins / Ear / Genetic Association Studies / DNA Copy Number Variations Type of study: Prognostic_studies Limits: Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2018 Type: Article Affiliation country: United kingdom

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