Pendred syndrome |
Autosomal Recessive Sensorineural Hearing Impairment and Goiter; Deafness with goiter; Goiter-deafness syndrome |
Recent Blog Posts
View Post: Research Shows Impacts of Enlarged Vestibular Aqueduct
News ...
16 Nov 2009 ...
View Blog: http://www.hearingreview.com/news/
View Post: Genetic Causes of Goiter and Deafness: Pendred Syndrome in a Girl ...
3 Jun 2009 by Borck, G., Seewi, O., Jung, A., Schonau,...
Context: Goiter and deafness can be associated in some genetic syndromes, e.g. Pendred syndrome (PS) and resistance to thyroid hormone (RTH). PS is an autosomal recessive disorder characterized by goiter and sensorineural hearing ...
View Blog: The Journal of Clinical Endocrinology &... - http://jcem.endojournals.org/
View Post: Arquivos Brasileiros de Endocrinologia & Metabologia - Pendred ...
30 Jan 2009
We report a Brazilian consanguineous family, in which six subjects harbor a homozygous mutation in the SLC26A4 gene (1197delT), causing Pendred syndrome. The clinically unaffected mother and two other siblings are heterozygous for this ...
View Blog: Arquivos Brasileiros de Endocrinologia... - http://www.scielo.br/rss.php?pid=0004-273020080008&la...
View Post: Developmental delays consistent with cochlear hypothyroidism ...
30 Oct 2009 by Wangemann, P., Kim, H.-M., Billings, S.,...
Mutations of SLC26A4 cause an enlarged vestibular aqueduct, nonsyndromic deafness, and deafness as part of Pendred syndrome. SLC26A4 encodes pendrin, an anion exchanger located in the cochlea, thyroid, and kidney. ...
View Blog: AJP: Renal Physiology recent issues - http://ajprenal.physiology.org/
View Post: Pendred syndrome definition - Medical Dictionary definitions of ...
28 Aug 2002
Pendred syndrome: A genetic disease characterized by congenital deafness, abnormality of the bony labyrinth in the inner ear, and goiter (enlargement of the thyroid gland). The congenital nerve deafness is severe to profound and is not ...
View Blog: MedicineNet Pendred Syndrome Specialty - http://www.medicinenet.com/pendred_syndrome/
View Post: hypothyroidism in pendred syndrome – the thyroidal involvement in ...
11 Aug 2009 by admin
pendred syndrome is a disorder that is characterized by early hearing loss in children. it is a genetic syndrome which also affects the thyroid gland and the balance of the patient. children with this disorder may lose their hearing at ...
View Blog: Loss Of Hearing - http://www.lossofhearinginfo.com/
View Post: a lesson in genetics...
13 Jul 2009 by Ben's Mom
ben was tested for an autosomal recessive disorder called pendred syndrome. autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. an autosomal recessive disorder means two ...
View Blog: Ben's journey into a hearing world. - http://bensjourneytohear.blogspot.com/
View Post: Renal Fellow Network: Pendred Syndrome
29 Mar 2009 by nathanhellman
Pendred Syndrome is an autosomal recessive disorder caused by mutations in the solute carrier family 26 member 4 gene (SLC26A4) which has some relevance to nephrology and acid-base metabolism. Its main phenotypic manifestations are ...
View Blog: Renal Fellow Network - http://renalfellow.blogspot.com/
View Post: Computer Factory Workers At Increased Risk Of Cancer, Large Study ...
19 Nov 2009 by tdomf_ac833
symptoms for jaundice phentermine civ-xr side effects Children who are born with Pendred syndrome may begin to lose their hearing at birth or by the time they are three years old. The hearing loss is progressive, which means that a ...
View Blog: Promoku.com - http://promoku.com/v2/

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