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A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait.
Clin Genet. 1992 Jun; 41(6):293-5.CG

Abstract

In 1982, Nadol & Burgess reported a new syndrome of cataract and progressive sensorineural hearing loss, inherited in an autosomal dominant fashion. Extensive histopathologic studies of the inner ear of the proband revealed severe cochleosaccular degeneration. No other sporadic or familial cases of such a genetic syndrome have subsequently been described. We report here a second family in which the syndrome of cataract and progressive sensorineural deafness is observed in eight members, and is inherited according to an autosomal dominant pattern.

Authors+Show Affiliations

Istituto di Discipline Pediatriche Universitá di Torino, Italy.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1623624

Citation

Guala, A, et al. "A Syndrome of Progressive Sensorineural Deafness and Cataract Inherited as an Autosomal Dominant Trait." Clinical Genetics, vol. 41, no. 6, 1992, pp. 293-5.
Guala A, Germinetti V, Sebastiani F, et al. A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait. Clin Genet. 1992;41(6):293-5.
Guala, A., Germinetti, V., Sebastiani, F., & Silengo, M. C. (1992). A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait. Clinical Genetics, 41(6), 293-5.
Guala A, et al. A Syndrome of Progressive Sensorineural Deafness and Cataract Inherited as an Autosomal Dominant Trait. Clin Genet. 1992;41(6):293-5. PubMed PMID: 1623624.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait. AU - Guala,A, AU - Germinetti,V, AU - Sebastiani,F, AU - Silengo,M C, PY - 1992/6/1/pubmed PY - 1992/6/1/medline PY - 1992/6/1/entrez SP - 293 EP - 5 JF - Clinical genetics JO - Clin Genet VL - 41 IS - 6 N2 - In 1982, Nadol & Burgess reported a new syndrome of cataract and progressive sensorineural hearing loss, inherited in an autosomal dominant fashion. Extensive histopathologic studies of the inner ear of the proband revealed severe cochleosaccular degeneration. No other sporadic or familial cases of such a genetic syndrome have subsequently been described. We report here a second family in which the syndrome of cataract and progressive sensorineural deafness is observed in eight members, and is inherited according to an autosomal dominant pattern. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/1623624/A_syndrome_of_progressive_sensorineural_deafness_and_cataract_inherited_as_an_autosomal_dominant_trait_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1992&volume=41&issue=6&spage=293 DB - PRIME DP - Unbound Medicine ER -