Townes-Brocks Syndrome 1 (TBS1)

Alias:

Townes-Brocks Branchiootorenal-Like Syndrome

Deafness, Sensorineural, with Imperforate Anus and Thumb Anomalies

Anus, Imperforate, with Hand, Foot, and Ear Anomalies

Townes-Brocks-Branchiootorenal-Like Syndrome

Renal-Ear-Anal-Radial Syndrome

Rear Syndrome

Tbs1

Townes-Brocks Syndrome, Type 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Townes-Brocks Syndrome 1, also known as townes-brocks branchiootorenal-like syndrome, is related to townes-brocks syndrome. An important gene associated with Townes-Brocks Syndrome 1 is SALL1 (Spalt Like Transcription Factor 1). Affiliated tissues include heart and uterus, and related phenotypes are duane anomaly and microtia

Related ID：

MALACARDS：TWN011

OMIM：107480

MESH：D000015