The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay

참고문헌 (9)

1. Battaglia A, "Wolf-Hirschhorn syndrome : a review and update", Am J Med Genet C Semin Med Genet, 169, pp.216~223 (2015)
2. Alesi V, "A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis", Am J Med Genet A, 155A, pp.2543~2551 (2011)
3. Lee JS, "A Case of Wolf-Hirschhorn Syndrome with del (4) (p15.2)", Korean J Clin Pathol, 19, pp.137~140 (1999)
4. Park SH, "Oligomeganephronia associated with 4p deletion type chromosomal anomaly", Pediatr Pathol, 13, pp.731~740 (1993)
5. Unni DK, "Multiple Slits regulate the development of midline glial populations and the corpus callosum", Dev Biol, 365, pp.36~49 (2012)
6. Holmqvist MH, "Elimination of fast inactivation in Kv4 A-type potassium channels by an auxiliary subunit domain", Proc Natl Acad Sci U S A, 99, pp.1035~1040 (2002)
7. Kegel L, "Functional phylogenetic analysis of LGI proteins identifies an interaction motif crucial for myelination", Development, 141, pp.1749~1756 (2014)
8. Imayoshi I, "Essential roles of Notch signaling in maintenance of neural stem cells in developing and adult brains", J Neurosci, 30, pp.3489~3498 (2010)
9. Hassed SJ, "RBPJ mutations identified in two families affected by Adams-Oliver syndrome", Am J Hum Genet, 91, pp.391~395 (2012)

관련 논문AI추천