Tricho-rhino-phalangeal Syndrome with Growth Hormone Deficiency: a Case Report and Literature Review

Tricho-rhino-phalangeal Syndrome with Growth Hormone Deficiency: a Case Report and Literature Review

Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disease, which is characterized by sparse hair, pear-shaped nose, partial cone-shaped epiphyses of the phalanges of the hand (foot) and brachydactyly. We reported a patient with short stature and special facial features who...

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Bibliographic Details
Main Author: CHEN Bo, LIU Qing
Format: Article
Language:zho
Published: Chinese General Practice Publishing House Co., Ltd 2023-07-01
Series:Zhongguo quanke yixue
Subjects:
tricho-rhino-phalangeal syndrome|growth hormone deficiency|recombinant human growth hormone|short stature|genetic testing|case report
Online Access:https://www.chinagp.net/fileup/1007-9572/PDF/zx20220414.pdf

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