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
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.
Rezende RC et al.
The Journal of Pediatrics, 2024
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Andrade NLM et al.
Endocrine Connections, 2022
Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.
Freire BL et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
Vasques GA et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
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