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| Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay |
| 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 DOI: https://doi.org/10.3345/kjp.2016.59.1.16 |
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Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay Korean Journal of Pediatrics. 2016;59(1):16  Mild developmental delay and obesity in two patients with mosaic 1p36 deletion syndrome American Journal of Medical Genetics Part A. 2013;164(2):415-420 Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome Clinical Genetics. 2009;76(5):449-457 Growth patterns of patients with 1p36 deletion syndrome Congenital Anomalies. 2014;54(2):82-86 Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome European Journal of Medical Genetics. 2011;54(2):177-180 Hypoparathyroidism and facial dysmorphism as main symptoms of 22q.11 deletion syndrome Brain and Development. 2003;25(3):211-214 Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations Case Reports in Genetics. 2013;2013:1-4 The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism Journal of Genetic Medicine. 2022;19(2):105-110 Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, includingTUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation American Journal of Medical Genetics Part A. 2015;167(11):2731-2736 Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion American Journal of Medical Genetics Part A. 2017;173(9):2467-2471 |
