scholarly journals A New Locus for Nonsyndromic Hereditary Hearing Impairment, DFNA17, Maps to Chromosome 22 and Represents a Gene for Cochleosaccular Degeneration

1999 ◽  
Vol 64 (1) ◽  
pp. 318-323 ◽  
Author(s):  
Anil K. Lalwani ◽  
William M. Luxford ◽  
Anand N. Mhatre ◽  
Ali Attaie ◽  
Edward R. Wilcox ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Chromosome 22 ◽  
Hereditary Hearing Impairment ◽  
Nonsyndromic Hereditary Hearing Impairment

scholarly journals DFNA25, a Novel Locus for Dominant Nonsyndromic Hereditary Hearing Impairment, Maps to 12q21-24

2001 ◽  
Vol 68 (1) ◽  
pp. 254-260 ◽  
Author(s):  
Charles C. Greene ◽  
Pamella M. McMillan ◽  
Susan E. Barker ◽  
Purnima Kurnool ◽  
Margaret I. Lomax ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Hereditary Hearing Impairment ◽  
Nonsyndromic Hereditary Hearing Impairment

scholarly journals A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3

1995 ◽  
Vol 4 (10) ◽  
pp. 1967-1972 ◽  
Author(s):  
Marci M. Lesperance ◽  
James W. Hail ◽  
Fred H. Bess ◽  
Kunihiro Fukushima ◽  
Pawan K. Jain ◽  
...  
Keyword(s):  
Hearing Impairment ◽  
Autosomal Dominant ◽  
Hereditary Hearing Impairment ◽  
Nonsyndromic Hereditary Hearing Impairment

scholarly journals Hereditary Hearing Impairment with Cutaneous Abnormalities

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 43
Author(s):  
Tung-Lin Lee ◽  
Pei-Hsuan Lin ◽  
Pei-Lung Chen ◽  
Jin-Bon Hong ◽  
Chen-Chi Wu
Keyword(s):  
Connective Tissue ◽  
Hearing Impairment ◽  
Early Identification ◽  
Database Search ◽  
Connective Tissue Disorders ◽  
Cutaneous Manifestations ◽  
Genetic Causes ◽  
Profound Influence ◽  
Pubmed Database ◽  
Hereditary Hearing Impairment

Syndromic hereditary hearing impairment (HHI) is a clinically and etiologically diverse condition that has a profound influence on affected individuals and their families. As cutaneous findings are more apparent than hearing-related symptoms to clinicians and, more importantly, to caregivers of affected infants and young individuals, establishing a correlation map of skin manifestations and their underlying genetic causes is key to early identification and diagnosis of syndromic HHI. In this article, we performed a comprehensive PubMed database search on syndromic HHI with cutaneous abnormalities, and reviewed a total of 260 relevant publications. Our in-depth analyses revealed that the cutaneous manifestations associated with HHI could be classified into three categories: pigment, hyperkeratosis/nail, and connective tissue disorders, with each category involving distinct molecular pathogenesis mechanisms. This outline could help clinicians and researchers build a clear atlas regarding the phenotypic features and pathogenetic mechanisms of syndromic HHI with cutaneous abnormalities, and facilitate clinical and molecular diagnoses of these conditions.

X-linked Hereditary Hearing Impairment

2003 ◽  
Vol 1 (1) ◽  
pp. 29-32 ◽  
Author(s):  
MARKUS HF PFISTER ◽  
ANIL K LALWANI
Keyword(s):  
Hearing Impairment ◽  
Hereditary Hearing Impairment
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