Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD 1 maps to 20p13

Journal of Medical Genetics

Volumn 39, Issue 2, 2002, Pages 110-112

  Abramowicz, M J ^a   Albuquerque Silva, J ^a   Zanen, A ^a  

^a ERASME HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 20P; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CORNEA DYSTROPHY; DISEASE ASSOCIATION; FEMALE; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC LINKAGE; HARBOYAN SYNDROME; HEARING LOSS; HOMOZYGOSITY; HUMAN; MALE; MICROSATELLITE MARKER; MOROCCO; PERCEPTION DEAFNESS; PRIORITY JOURNAL;

EID: 0036166254     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.2.110     Document Type: Article

References (9)

1. Congenital hereditary corneal dystrophy
2. Linkage of congenital hereditary endothelial dystrophy to chromosome 20
3. Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping
4. Congenital corneal dystrophy: Progressive sensorineural deafness in a family
5. A further observation of corneal dystrophy and perceptive deafness in two siblings
6. Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome)
7. Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
8. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping
9. Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15