Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1-Reference-Cited by-同舟云学术

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1

Published:2015-05-01 Issue:3 Volume:35 Page:387-389
ISSN:2234-3806
Container-title:Annals of Laboratory Medicine
language:en
Short-container-title:Ann Lab Med

Author:

Jang Mi-Ae¹,Kim Ok-Hwa²,Kim Sun Wook³,Ki Chang-Seok¹

Affiliation:

1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

2. Department of Radiology, Woorisoa Children’s Hospital, Seoul, Korea

3. Division of Endocrinology and Metabolism, Department of Medicine, Thyroid Center, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Publisher

Annals of Laboratory Medicine

Subject

Biochemistry, medical,Clinical Biochemistry,General Medicine

Link

https://synapse.koreamed.org/pdf/10.3343/alm.2015.35.3.387

Reference10 articles.

1. Brachydactyly

2. A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis

3. A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range

4. A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2

5. Mutations in GDF5 presenting as semidominant brachydactyly A1

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. Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene;Frontiers in Genetics;2022-05-20

2. Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1;BMC Medical Genomics;2021-07-27

3. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants;The Journal of Clinical Endocrinology & Metabolism;2020-04-20