search for


Journal of Genetic Medicine 2019;16:49-89
Original Articles
Identification of Potocki–Lupski syndrome in patients with developmental delay and growth failure
Sujin Jun, Yena Lee, Arum Oh, Gu-Hwan Kim, Eulju Seo, Beom Hee Lee, Jin-Ho Choi, and Han-Wook Yoo
Journal of Genetic Medicine 2019;16:49-54
Clinical and genetic characteristics of Korean patients with IARS2-related disorders
Jin Sook Lee, Man Jin Kim, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Murim Choi, Moon-Woo Seong, and Jong-Hee Chae
Journal of Genetic Medicine 2019;16:55-61
Case Reports
A newborn girl with harlequin ichthyosis genetically confirmed by ABCA12 analysis
Jihye Kim, Jung Min Ko, Seung Han Shin, Ee-Kyung Kim, and Han-Suk Ki
Journal of Genetic Medicine 2019;16:62-66
A familial case of limb-girdle muscular dystrophy with CAV3 mutation
Seungbok Lee, Sesong Jang, Youngkyu Shim, Woo Joong Kim, Soo Yeon Kim, Anna Cho, Hunmin Kim, Jong-Il Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, and Jong Hee Chae
Journal of Genetic Medicine 2019;16:67-70
Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2
Young Ok Kim, Yun Young Lee, Myeong-Kyu Kim, and Young Jong Woo
Journal of Genetic Medicine 2019;16:71-75
Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review
Ji Eun Park, Ji Kwon Park, Min Young Kang, Hyen Chul Jo, In Ae Cho, and Jong Chul Baek
Journal of Genetic Medicine 2019;16:76-80
A case of Noonan syndrome diagnosed using the facial recognition software (FACE2GENE)
Soo Kyoung Kim, So Yoon Jung, Seong Phil Bae, Jieun Kim, Jeongho Lee and Dong Hwan Lee
Journal of Genetic Medicine 2019;16:81-84
A neonate with hyperornithinemia-hyperammonemiahomocitrullinuria syndrome from a consanguineous Pakistani family
Yoo-Mi Kim, Han Hyuk Lim, Mi Hyeon Gang, Yong Wook Lee, Sook Za Kim, Gu-Hwan Kim, Han-Wook Yoo, Jung-Min Ko, and Meayoung Chang
Journal of Genetic Medicine 2019;16:85-89
The Journal of Genetic Medicine (ISO abbreviation: J Genet Med, JGM) is a peer reviewed and open-access journal of the Korean Society of Medical Genetics and Genomics, providing up-to-date information relevant to the professions of genetics and medicine....
Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
Bom Yi Lee, Shin Young Lee, Yeon Woo Lee, Shin Young Kim, Jin Woo Kim, Hyun Mee Ryu, Joong Shik Lee, So Yeon Park, and Ju Tae Seo
Received May 23, 2016; Accepted August 16, 2016.
Noninvasive prenatal test for the pregnancy with Turner syndrome mosaicism 45, X/47, XXX: A case report
Ji Hye Kim, Gun Ho Lee, Dong Hyun Cha, Eun-Hae Cho, and Yong Wook Jung
Received November 6, 2015; Accepted December 10, 2015.
Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation
Yeon Jeong Seo, Ko Eun Lee, Jung Min Ko, Gu-Hwan Kim, and Han-Wook Yoo
Received June 1, 2015; Accepted June 10, 2015.