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Contents 1

(The) first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism / Jin Young Cho ; Tae Kwan Lee ; Yoo Mi Kim ; Han Hyuk Lim 1

[요약] 1

Introduction 1

Case 2

Discussion 4

Authors' Contributions 5

References 5

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기사명 저자명 페이지 원문 목차
Clinical application of prenatal chromosomal microarray Chang Ahn Seol p. 43-48

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Mitophagy stimulation as a novel strategy for the treatment of mitochondrial diseases Kang-Min Lee, Jeanho Yun p. 49-56

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Genetic diagnosis of systemic autoinflammatory diseases and underlying primary immunodeficiency Seung Hwan Oh p. 57-62

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Identification of novel susceptibility genes associated with bone density and osteoporosis in Korean women Bo-Young Kim, Do-Wan Kim, Eunkuk Park, Jeonghyun Kim, Chang-Gun Lee, Hyun-Seok Jin, Seon-Yong Jeong p. 63-75

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Prospective evaluation of the clinical utility of whole-exome sequencing using buccal swabbing for undiagnosed rare diseases Chong Kun Cheon, Yong Beom Shin, Soo-Yeon Kim, Go Hun Seo, Hane Lee, Changwon Keum, Seung Hwan Oh p. 76-84

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Clinical and molecular characteristics of Korean children with cornelia de lange syndrome Dayun Kang, Hwa Young Kim, Jong-Hee Chae, Jung Min Ko p. 85-93

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Co-occurrence of both maternally inherited neurofibromatosis type 1 and Lesch-Nyhan disease in a child with severe neurodevelopmental impairment Jae Hun Yun, Yong Hee Hong, Go Hun Seo, Young-Lim Shin p. 94-99

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SLC9A6-related developmental and epileptic encephalopathy with spike-and-wave activation in sleep : a case report Hye Ri Bae, Young Ok Kim p. 100-104

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(The) first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism Jin Young Cho, Tae Kwan Lee, Yoo Mi Kim, Han Hyuk Lim p. 105-110

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Variant of CHD1 gene resulting in a Korean case of Pilarowski-Bjornsson syndrome Yoon Sunwoo, Soo Hyun Seo, Ho-Joong Kim, Moon Seok Park, Anna Cho p. 111-114

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(The) rare case of 46,XX testicular disorder of sex development carrying a heterozygous p.Arg92Trp variant in NR5A1 Lia Kim, Hwa Young Kim, Jung Min Ko p. 115-119

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