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

Ann Lab Med. 2015 May;35(3):387-9. doi: 10.3343/alm.2015.35.3.387. Epub 2015 Apr 1.

Authors

Mi-Ae Jang¹, Ok-Hwa Kim², Sun Wook Kim³, Chang-Seok Ki¹

Affiliations

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.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Asian People
Base Sequence
Brachydactyly / diagnosis
Brachydactyly / genetics*
DNA / chemistry
DNA / genetics
DNA / metabolism
DNA Mutational Analysis
Fingers / abnormalities
Hedgehog Proteins / genetics*
Humans
Male
Pedigree
Polymorphism, Single Nucleotide
Republic of Korea
Toes / abnormalities

Substances

Hedgehog Proteins
IHH protein, human
DNA

Supplementary concepts

Brachydactyly type A1