논문KCI 등재
A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea
2
조회
0
다운로드
0
인용
0
참고문헌
주제분류소아과학
참고문헌 (7)
- Tompson SW, "Fibrochondrogenesis results from variants in the COL11A1 type XI collagen gene", The American Journal of Human Genetics, 87, pp.708~712 (2010)
- Bekdache GN, "Fibrochondrogenesis : prenatal diagnosis and outcome", Journal of Obstetrics and Gynaecology, 33, pp.663~668 (2013)
- Al-Gazali LI, "Erratum : Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population", Birth Defects Research Part A-Clinical and Molecular Teratology, 67, pp.125~132 (2003)
- Dong Z, "Identification of novel heterozygous missense variant in the COL11A1 causing fetal craniofacial anomalies", All Life, 15, pp.240~246 (2022)
- Čopíková J, "Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes", Annals of Human Genetics, 84, pp.380~392 (2020)
- Hufnagel SB, "A novel dominant COL11A1 variant resulting in a severe skeletal dysplasia", American Journal of Medical Genetics Part A, 164, pp.2607~2612 (2014)
- Plachy L, "Familial short stature—a novel phenotype of growth plate collagenopathies", The Journal of Clinical Endocrinology & Metabolism, 106, pp.1742~1749 (2021)
관련 논문AI추천
Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1기창석, 김선욱, 김옥화, 장미애대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제3호Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease ( RMRP ) Gene Variants: The First Case in KoreaCho Won Kyoung, Hyun Hyesun, Ki Chang-Seok, Lee Jung Hyun, Namgoong Ho, Oh Jin-Hee, Yoo Il Han대한진단검사의학회 · Annals of Laboratory Medicine2021 · 제41권 제3호Compound Heterozygous Pathogenic Variants of the 15-Hydroxyprostaglandin Dehydrogenase Gene in a Patient With Hypertrophic Osteoarthropathy: First Case in Korea기창석, 김성윤, 류미라, 양지현, 이상열, 조아라대한진단검사의학회 · Annals of Laboratory Medicine2019 · 제39권 제1호First Identifcation of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy김승민, 박형준, 신하영, 이정환, 이지현, 최영철대한신경과학회 · Journal of Clinical Neurology2016 · 제12권 제1호COL2A1 유전자의 새로운 돌연변이에 의한 제1형 Stickler 증후군 1예김구환, 김신혜, 박동규, 박미정, 유한욱, 이범희대한내과학회 · 대한내과학회지2014 · 제87권 제6호Identification of the CFAP410 Pathogenic Variants in a Korean Patient with Autosomal Recessive Retinitis Pigmentosa and Skeletal AnomaliesAh Reum Kim, Byoung Joon Kim, Dong Hoon Shin, Hye In Woo, Ja-Hyun Jang, Sang Jin Kim, Woong-Yang Park대한안과학회 · Korean Journal of Ophthalmology2020 · 제34권 제6호
이 간행물의 다른 논문 (10건)
Commentary on "Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents"정소윤pp. 73-74Gynecomastia in adolescent males: current understanding of its etiology, pathophysiology, diagnosis, and treatmentMetwalley Kotb Abbass, Farghaly Hekma Saadpp. 75-81Safety and tolerability of sodium-glucose cotransporter-2 inhibitors in children and young adults: a systematic review and meta-analysisKhandelwal Deepak, Girijashankar Harish Bukkasagar, Sharma Meha, Nagendra Lakshmi, Dutta Deep, Lathia Tejalpp. 82-89Effectiveness of the triptorelin stimulation test compared with the classic gonadotropin-releasing hormone stimulation test in diagnosing central precocious puberty in girlsRhie Young-Jun, Lee Kee-Hyoung, Hwangbo Jung, Kim Yu Jin, Nam Hyo-Kyoung, Kang Eungu, Park Kyu Hyunpp. 90-94The influence of pituitary volume on the growth response in growth hormone-treated children with growth hormone deficiency or idiopathic short statureKwon Ahreum, Song Kyungchul, Suh Junghwan, Kim Ho-Seong, Oh Jun Suk, Sohn Beomseok, Choi Younghapp. 95-101
