Alagille syndrome and deletion of 20p

Autor:	E. Eastham, R. Mueller, F. Anad, I. Cross, D. Matthews, John Burn, D. M. Lillington, M. Sands, B. C. C. Davison
Rok vydání:	1990
Předmět:	Adult Heart Defects Congenital Male Pediatrics medicine.medical_specialty Adolescent Familial transmission Chromosomes Human Pair 20 Biology Kidney Bone and Bones Facial Bones Alagille syndrome Genetics medicine Humans Abnormalities Multiple Eye Abnormalities Craniofacial Genetics (clinical) Cholestasis Skull Cytogenetics Infant Karyotype Anatomy Syndrome medicine.disease Chromosome Banding Eye abnormality Child Preschool Female Chromosome 20 Chromosome Deletion Kidney abnormalities Research Article
Zdroj:	Journal of medical genetics. 27(12)
ISSN:	0022-2593
Popis:	We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. Included in our series is the first report of familial transmission of a 20p deletion.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::083487e03cd084d04dcf3b24a621d984 https://pubmed.ncbi.nlm.nih.gov/2074558 Zobrazit plný text záznamu