The Bjornstad Syndrome (Sensorineural Hearing Loss and Pili Torti) Disease Gene Maps to Chromosome 2q34-36
Open Access
- 1 May 1998
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 62 (5) , 1107-1112
- https://doi.org/10.1086/301837
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- Isolation and characterization of genomic clones of human sequences presumably coding for hair cysteine-rich proteinsJournal of Dermatological Science, 1997
- Genes responsible for human hereditary deafness: symphony of a thousandNature Genetics, 1996
- Genetic epidemiological studies of early‐onset deafness in the U.S. school‐age populationAmerican Journal of Medical Genetics, 1993
- Pili torti with congenital deafness (Bjornstad's syndrome)- report of three cases in one family, suggesting autosomal dominant transmissionClinical and Experimental Dermatology, 1993
- Genetic deafness.Journal of Medical Genetics, 1992
- Genetic Epidemiology of Hearing ImpairmentAnnals of the New York Academy of Sciences, 1991
- A molecular basis for familial hypertrophic cardiomyopathy: An αβ cardiac myosin heavy chain hybrid geneCell, 1990
- Björnstad Syndrome and Pili TortiPediatric Dermatology, 1983
- Pili Torti with Deafness (Bjørnstad Syndrome)Dermatology, 1979
- Pili torti and sensory neural hearing lossThe Journal of Pediatrics, 1967