Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.

Bae, Jihong; Choi, Hong Seok; Park, So Young; Lee, Do Eun; Lee, Sihoon.

Afiliação

Bae J; Department of Internal Medicine and Laboratory of Genomics and Translational Medicine, Gachon University College of Medicine, Incheon, Korea.
Choi HS; Department of Internal Medicine and Laboratory of Genomics and Translational Medicine, Gachon University College of Medicine, Incheon, Korea.
Park SY; Department of Internal Medicine, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea.
Lee DE; Private Practice, Lafayette, CA, USA.
Lee S; Department of Internal Medicine and Laboratory of Genomics and Translational Medicine, Gachon University College of Medicine, Incheon, Korea. shleemd@gachon.ac.kr.

Endocrinol Metab (Seoul) ; 33(2): 252-259, 2018 Jun.

Article em En | MEDLINE | ID: mdl-29947179