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Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome
Background: Geleophysic dysplasia and Weill-Marchesani syndrome from the acromelic dysplasias group of genetic skeletal disorders share remarkable clinical and genetic overlap. Methods: Ophthalmological, physical, radiological examinations were conducted with a female patient in her early 30 s. Whol...
Autores principales: | Li, Mojiang, Li, Yingshu, Liu, Huixing, Zhou, Haiyan, Xie, Wanqin, Peng, Qinghua |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554500/ https://www.ncbi.nlm.nih.gov/pubmed/36246610 http://dx.doi.org/10.3389/fgene.2022.1014188 |
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