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Non‐syndromic, autosomal‐recessive deafness
Clinical Genetics, 2006Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear disease genes reported so far. Autosomal‐recessive genes are responsible for about 80% of the cases of hereditary non‐syndromic deafness of pre‐lingual onset with 23 different genes identified to date.
P J Willems, Michael B Petersen
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Hair phenotype in non-syndromic deafness [PDF]
International Journal of Pediatric Otorhinolaryngology, 2013 The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss.
Volo T +6 more
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Non-syndromic autosomal-dominant deafness
Clinical Genetics, 2002Non‐syndromic deafness is a paradigm of genetic heterogeneity. More than 70 loci have been mapped, and 25 of the nuclear genes responsible for non‐syndromic deafness have been identified. Autosomal‐dominant genes are responsible for about 20% of the cases of hereditary non‐syndromic deafness, with 16 different genes identified to date.
Michael B Petersen
exaly +3 more sources
Patterns of non-syndromic permanent tooth agenesis in a large orthodontic population [PDF]
Archives of Oral Biology, 2017 OBJECTIVE: The aim of this study is to explore patterns of non-syndromic permanent tooth agenesis in a large orthodontic patient group. DESIGN: A record review was performed in various orthodontic clinics to identify white patients with non ...
Nikolaos Gkantidis +2 more
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Non-syndromic craniosynostosis
2021Abstract Craniosynostosis is defined as the premature fusion of a skull suture and has an incidence of approximately 1:2000 live births. Historically, craniosynostosis was subdivided into primary and secondary synostosis. Further subclassifications included syndromic/non-syndromic and single/multisuture.
Christian Duncan, Hiroshi Nishikawa
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Non-syndromic craniosynostosis
Nature Reviews Disease PrimersCraniosynostosis is characterized by the premature fusion of one or more major cranial sutures at birth or soon after. Single-suture non-syndromic craniosynostosis (NSC) is the most common form of craniosynostosis and includes the sagittal, metopic, unicoronal and unilambdoid subtypes.
Michael Alperovich +3 more
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