ArticleFrontiers in pediatrics2024
Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in
Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.European journal of pediatrics · 2026Article
- Article
- A novel compound heterozygous mutation inInternational journal of ophthalmology · 2026Article
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6 authors.
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Abstract
Background: Acromelic dysplasia caused by Case report: The proband presented with typical facial features, severe short stature, short limbs, stubby hands and feet and radiological abnormalities. Her elder sister and mother had similar physical features. In addition, her elder sister was found to have aortic valve stenosis by echocardiography. Mutation analysis demonstrated a heterozygous missense mutation, c.5179C>T (p.Arg1727Trp) in exon 42 of the Conclusion: These findings expand the phenotypic spectrum of
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