STX16 exon 5-7 deletion in a patient with pseudohypoparathyroidism type 1B.
Li ChenChuanbin YangXiaoxiao ZhangBeibei ChenPeibing ZhengTingting LiWenjing SongHua GaoXiaofang YueJiajun Yang
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2024)
For the recognition and early diagnosis of this kind of disease, here we report the clinical symptoms, auxiliary examinations, genetic testing characteristics, and treatment of the patient.