Split hand/foot malformation with long-bone deficiency andBHLHA9duplication: A prenatal diagnosis report-Reference-Cited by-同舟云学术

Split hand/foot malformation with long-bone deficiency andBHLHA9duplication: A prenatal diagnosis report

Published:2015-12-31 Issue:2 Volume:12 Page:123-127
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Cho In Ae¹,Park Ji Kwon¹²,Baek Jong Chul¹,Ha A Na¹,Kang Min Young¹,Lee Jae Ik¹,Park Ji Eun¹,Shin Jeong Kyu¹²,Choi Won Jun¹²,Lee Soon Ae¹²,Lee Jong Hak¹²,Paik Won Young¹²

Affiliation:

1. Department of Obstetrics and Gynecology, Gyeongsang National University School of Medicine, Jinju, Korea

2. Institute of Health Science, Gyeongsang National University School of Medicine, Jinju, Korea

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2015/012/JGM-12-123.pdf

Reference18 articles.

1. Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update

2. Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

3. Fibular aplasia with ectrodactyly

4. Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and consideration about variability and penetrance

5. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling;American Journal of Medical Genetics Part A;2022-12-24

2. The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency;Taiwanese Journal of Obstetrics and Gynecology;2019-07

3. Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature;BMC Medical Genetics;2019-06-14