ArticleJournal of advanced research2020
A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in
Article in Journal of advanced research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 14 citations in OpenAlex.
- A Novel Missense Variant inChildren (Basel, Switzerland) · 2025Article
- Rare coexistence of hypopituitarism with osteogenesis imperfecta - A double-trouble for bone.Bone reports · 2024Article
- Dental characteristics of patients with four different types of skeletal dysplasias.Clinical oral investigations · 2023Article
- A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases.Scientific reports · 2022Article
- Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation ofInternational journal of neonatal screening · 2021Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic disorders have been shown to co-occur in individual patient. A Thai boy with features of osteogenesis imperfecta (OI) and combined pituitary hormone deficiency (CPHD) was identified. The causative mutations were investigated by whole exome and Sanger sequencing. Pathogenicity and pathomechanism of the variants were studied by luciferase assay. The proband was found to harbor a novel
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