Article
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.
Annals of clinical and laboratory science - 1 Jan 2012
Sohn Young Bae, Ki Chang-Seok, Park Sung Won, Cho Sung-Yoon, Ko Ah-Ra, Kwon Min-Jung, Kim Ji-Youn, Park Hyung-Doo, Kim Ok-Hwa, Jin Dong-Kyu
Abstract excerpt
Tricho-rhino-phalangeal syndrome type I (TRPSI) is a rare autosomal dominant hereditary disorder characterized by sparse hair, bulbous nose, long philtrum, thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. TRPSI is caused by mutations in the TRPS1 gene. Herein, we report two Korean cases of TRPSI. Although both patients (a...
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