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Phenotypic Heterogeneity of ZMPSTE24 Deficiency
A 4 year old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman-Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isod...
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| Publicado en: | Am J Med Genet A |
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| Autores principales: | , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2018
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5911413/ https://ncbi.nlm.nih.gov/pubmed/29341437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38493 |
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