- Review Article
- Endocrinology
- Growth plate closure and therapeutic interventions
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Ja Hyang Cho, Hae Woon Jung, Kye Shik Shim
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Clin Exp Pediatr. 2024;67(11):553-559. Published online October 28, 2024
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Height gains result from longitudinal bone growth. Upon adequate growth, growth plate closure limits longitudinal bone growth. To date, gonadotropin-releasing hormone analogs, aromatase inhibitors, C-type natriuretic peptide analogs, and fibroblast growth factor receptor 3 inhibitors have been studied or used as therapeutic interventions to delay growth plate closure and increase human height. The development of more effective therapeutic modalities for short stature, precocious puberty, and skeletal dysplasia is anticipated. |
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- Case Report
- Endocrinology
- Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms
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Yoon-Myung Kim, In-Hee Choi, Jun Suk Kim, Ja Hye Kim, Ja Hyang Cho, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Eul-Ju Seo, Han-Wook Yoo
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Clin Exp Pediatr. 2016;59(Suppl 1):S25-S28. Published online November 30, 2016
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Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3, RAB, RABL2B, and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with... |
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- Original Article
- Genetics and Metabolism
- Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay
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Go Hun Seo, Ja Hye Kim, Ja Hyang Cho, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
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Clin Exp Pediatr. 2016;59(1):16-23. Published online January 22, 2016
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Purpose The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the... |
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