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Algorithm of Hennekam for the Diagnosis of Rubinstein-Tabyi Syndrome

Specialty:

Genetics

Objective:

ICD-10:

Description:

Hennekam developed an algorithm for the molecular diagnosis of Rubinstein-Taybi syndrome (RSTS). Many cases are associated with mutations in CREB binding protein (CRB), which functions as a suppressor to the cell cycle.

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