Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review - Top-Institutions - MDSpire

Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review

By
Hui Huang
Binyang Zhu
Zaisheng Wang
Zhuqiang Wu
Jinqiu Rao
Yu Yang
Xiangyu Xiong
July 17, 2026

Frontiers In Endocrinology

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Top Institutions in Endocrinology

Brief introduction explaining scope and methodology.

#1

Baylor College of Medicine

Houston, Texas
Key Differentiators
- Genetics
- Pediatric Orthopedics
#2

Boston Children’s Hospital

Boston, Massachusetts
Key Differentiators
- Genetics
- Pediatric Orthopedics
#3

Children’s Hospital of Fudan University

Shanghai, China
Key Differentiators
- Pediatric Genetics
#4

China Medical University

Shenyang, China
Key Differentiators
- Genetics
#5

Metabolic Bone Clinic

Unknown, Unknown
Key Differentiators
- Metabolic Bone Disorders

Original Source(s)

Frontiers In Endocrinology

Case Report: A novel PTHLH nonsense variant in a mother–son pair with brachydactyly type E and short stature, with a genotype–stature review

by Hui Huang, Binyang Zhu, Zaisheng Wang, Zhuqiang Wu, Jinqiu Rao, Yu Yang, Xiangyu Xiong
July 17, 2026

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