Rothmund-Thomson Syndrome, Type 1 (RTS1)

Rothmund-Thomson Syndrome, Type 1(来自ICD-11)

别称:

Rts1

Poikiloderma Atrophicans and Cataract

Rothmund-Thomson Syndrome Type 1

Poikiloderma of Rothmund-Thomson Type 1

Rothmund-Thomson Syndrome 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Rothmund-Thomson Syndrome, Type 1, also known as rts1, is related to rothmund-thomson syndrome, type 2 and cataract. An important gene associated with Rothmund-Thomson Syndrome, Type 1 is ANAPC1 (Anaphase Promoting Complex Subunit 1). Affiliated tissues include skin and eye, and related phenotypes are poikiloderma and juvenile cataract

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