• A neonate with Say?Barber?Biesecker?Young?Simpson syndrome with a novel pathogenic mutation in KAT6B...

• Shin Ji-Hye

• Lim Han-Hyuk, Gang Mi-Hyeon, Kim Seon-Young, Yang Shin-Seung, Chang Mea-Young

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 147 ~ 151

• A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report

• Lee Yoon-Ha

• Jeon Yong-Hyuk, Lim Seon-Hee, Ahn Yo-Han, Lee Sang-Yun, Ko Jung-Min, Ha II-Soo, Kang Hee-G...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 142 ~ 146

• Effective ketogenic diet in CACNA1A-related ¡®epilepsy of infancy with migrating focal seizures¡¯

• Na Hye-Jin

• Lee Sang-Hoon, Kim Young-Ok

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 137 ~ 141

• A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case...

• So Min-Kyung

• Huh Jung-Won, Kim Hae-Soon

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 132 ~ 136

• Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants...

• Kim Ae-Ryoung

• Lee Jong-Mok, Seo Go-Hun, Lee Sang-In, Bae Hyun-Woo, Lee Yun-Jeong

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 127 ~ 131

• Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene suc...

• Algahtani Hussein

• Shirah Bader Hamza, Alsaggaf Khalid, Al-Qahtani Mohammad H., Abdulkareem Angham Abdulrahman, Naseer ...

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 121 ~ 126

• Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed...

• Kim Bo-Ram

• Kim Ri-Na, Cho Angela, Kang Hye-Sim, Park Chul-Min, Kim Sung-Yob, Shim Soon-Sup

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 117 ~ 120

• A case of follow-up of a patient with 22q11.2 distal deletion syndrome and a review of the literatur...

• Ha Dong-Jun

• Park Ji-Sun, Jang Woo-Ri, Jung Na-Young, Kim Su-Jin, Moon Yeon-Sook, Lee Ji-Eun

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 110 ~ 116

• Pediatric tetrasomy 18p presenting as a spastic cerebral palsy: A case report

• Lim Ik-Hyun

• Park Sang-Hee, Suh Mi-Ri, Kwak Hyun-Seok, Park Woo-Kyung, Shim Sung-Han, Kim Min-Young

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 105 ~ 109

• A female patient with Xp21 gene deletion syndrome

• Kim Jung-Eun

• Lee Hyun-Joo, Na Ji-Hoon, Lee Young-Mock

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 101 ~ 104

• Medical genomic approach to early-onset scoliosis

• Yim Shin-Young

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 94 ~ 100

• Analyzing clinical and genetic aspects of axonal Charcot?Marie-Tooth disease

• Kwon Hye-Mi

• Choi Byung-Ok

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 83 ~ 93

• Progress, challenges, and future perspectives in genetic researches of stuttering

• Kang Chang-Soo

• ´ëÇÑÀÇÇÐÀ¯ÀüÇÐȸÁö   2021  Volume.18  No.2 75 ~ 82