논문KCI 등재
Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2017.11|Annals of Laboratory Medicine|제37권 제6호|pp. 563-565
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참고문헌 (4)
- Jordan VK, "1p36 deletion syndrome: an update", Appl Clin Genet, 8, pp.189~200 (2015)
- Heilstedt HA, "Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome", Am J Hum Genet, 72, pp.1200~1212 (2003)
- Kang SH, "Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome", Clin Genet, 72, pp.329~338 (2007)
- Xia F, "De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea", Am J Hum Genet, 94, pp.784~789 (2014)
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