Find all needed information about Townes Brocks Support. Below you can see links where you can find everything you want to know about Townes Brocks Support.
https://rarediseases.org/organizations/townes-brocks-syndrome-international-support-network/
The Townes-Brocks Syndrome International Support Network is a voluntary, non-profit organization that has an international online support network for people affected by Townes-Brocks Syndrome (TBS). This group is open to those interested in making friends, as well as sharing information and support with others affected by this disorder.
https://ghr.nlm.nih.gov/condition/townes-brocks-syndrome
Oct 29, 2019 · Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two of these three major features.
https://rarediseases.info.nih.gov/organizations/236
Synonyms: TBS, Renal-ear-anal-radial syndrome, REAR syndrome, Anus, imperforate, with hand, foot and ear anomalies, Deafness, sensorineural, with imperforate anus and hypoplastic thumbs, Imperforate anus with hand, foot and ear anomalies, Sensorineural deafness with imperforate anus and hypoplastic thumbs, Townes syndrome, Imperforate anus-hand, foot and ear anomalies syndrome
https://rarediseases.org/rare-diseases/townes-brocks-syndrome/
Townes-Brocks syndrome (TBS) is an autosomal dominant genetic disorder characterized by absence of the anal opening (imperforate anus), abnormal ears associated with hearing impairment and thumb malformations. Abnormalities in the feet, heart and kidneys also occur frequently. Townes-Brocks syndrome is associated with a mutation in the SALL1 gene.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734298/
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.Cited by: 154
https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome
92 rows · Oct 24, 2016 · Townes-Brocks syndrome is a genetic condition characterized by an …
https://www.facebook.com/Townesbrockssyndrome/posts/
Townes-Brocks syndrome. 58 likes · 13 talking about this. Townes-Brocks syndrome is a rare genetic disorder. 1 in 250,000 births have this rare disorder...
https://www.invitae.com/en/physician/tests/04724/
Add-on Townes-Brocks Syndrome Gene. SALL1. Individuals with Townes-Brocks syndrome have highly variable phenotypic presentations and share ocular and renal system involvement with BOR and BOS. Given the significant overlap between the branchiootorenal spectrum disorders and Townes-Brocks syndrome, as well as the difficulty in differentiating ...
https://www.omim.org/entry/617466
A number sign (#) is used with this entry because of evidence that Townes-Brocks syndrome-2 (TBS2) is caused by heterozygous mutation in the DACT1 gene (607861) on chromosome 14q23. One such family has been reported. For a discussion of genetic heterogeneity of Townes-Brocks …
https://www.ncbi.nlm.nih.gov/books/NBK1445/
Jan 24, 2007 · Feichtiger [1943] provided one of the earliest reports of Townes-Brocks syndrome. Townes & Brocks [1972] were the first to report autosomal dominant transmission of the characteristic anomalies. Kurnit et al [1978] used the term REAR syndrome (for …
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