Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion

Journal of Medical Genetics

Volumn 38, Issue 1, 2001, Pages 35-38

  Coupry, I ^a   Taine, L ^b   Goizet, C ^b   Soriano, C ^a   Mortemousque, B ^b   Arveiler, B ^b   Lacombe, D ^b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b BORDEAUX UNIVERSITY HOSPITAL   (France)

Author keywords

11q14 deletion; Leucodystrophy; Oculocutaneous albinism; Physical mapping

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 11Q; CONTIG MAPPING; GENE DELETION; GENE LOCATION; GENE MAPPING; HEMIZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPING; LEUKODYSTROPHY; MALE; NEWBORN; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL;

OXALIS TUBEROSA;

EID: 0035136835     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.1.35     Document Type: Article

References (10)

1. Disorders of the cerebral white matter in children. The spectrum of lesions
2. Metabolic disorders/degenerative diseases of childhood
3. A YAC contig encompassing the 11q14.3 breakpoint of a translocation associated with schizophrenia, and including the tyrosinase gene
4. Une méthode simple pour obtenir des prophases et des prométaphases
5. Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment
6. Simultaneous localisation of cosmids and chromosome R-banding by fluorescence microscopy: Application to regional mapping of human chromosome 11
7. Human tyrosinase gene, mapped to chromosome 11 (q14-q21), defines second region of homology with mouse chromosome 7
8. Human olfactory marker protein maps close to tyrosinase and is a candidate gene for Usher syndrome type I
9. Three different frameshift mutations of the tyrosinase gene in type 1A oculocutaneous albinism
10. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmo-plantar keratosis