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Townes-Brocks syndrome

Year: 1999

Type: article

Abstract: Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.

Source: Journal of Medical Genetics

DOI: 10.1136/jmg.36.2.89

Authors: Cynthia M Powell, Ron C Michaelis

Institutions: University of North Carolina at Chapel Hill, Greenwood Genetic Center

Language: English

Topic: Congenital limb and hand anomalies

Subfield: Developmental Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W2155971558

FWCI: 12.96

Cites: 37

Cited by: 149

Related to: 10