ArticleInternational journal of general medicine2021
A Review of Three Chinese Cases of Acromicric/Geleophysic Dysplasia with FBN1 Mutations.
Article in International journal of general medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
- Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.European journal of pediatrics · 2026Article
- Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.Journal of medical genetics · 2024Article
- Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation inFrontiers in pediatrics · 2024Article
- Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report.World journal of clinical cases · 2023Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThis study aims to explore the clinical features and molecular diagnosis of FBN1-related acromelic dysplasia in Chinese patients.
methodsThe clinical and genetic features of three FBN1-related acromicric dysplasia (AD)/geleophysic dysplasia (GD) Chinese patients from two families were reviewed, and comprehensive medical evaluations were performed. Targeted next-generation sequencing was used to detect genetic mutations associated with short statures, including FBN1. Sanger sequencing was used to determine the de novo mutation origin.
resultsPatient 1 presented with short stature, short and stubby hands and feet, mild facial dysmorphism, hepatomegaly, delayed bone age and beak-like femoral heads. Patient 2 and this patient's father merely presented with short stature, wide and short hands, and beak-like femoral heads. One novel mutation, c.5272G>T(p.D1758Y), and one known mutation, c.5183C>T(p.A1728V), were identified in these patients.
conclusionThe clinical features varied among these patients. The variant c.5272G>T(p.D1758Y) is a novel mutation.
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