Molecular genetic analysis and growth hormone treatment in a three-generation Chinese family with Tricho-rhino-phalangeal syndrome I

Conclusions: The variation of c.880_882delAAG in TRPS1 was responsible for the pathogenesis of the Chinese family with TRPS I. The treatment of GH could be beneficial for the height outcome in TRPS I patients, and earlier initiation and longer duration of the therapy in prepubertal or early pubertal stage could be associated with better height outcomes.
Source: Hormone Research in Paediatrics - Category: Endocrinology Source Type: research