- 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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