Associated Papers
A Novel Heterozygous IHH c.331_333del Mutation Identified in a Fetus with Brachydactyly Type A1 Causes IHH Protein Maturation Failure in HEK293T Cells.
Zhu T et al.
Phenomics (cham, Switzerland), 2025
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Hauer NN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Select a paper to view details