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Pseudotrisomy 13 and autosomal recessive holoprosencephaly.
Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13. IMAGES:
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| Publicado en: | J Med Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMJ Publishing Group
1993
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016613/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8301659/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.11.970 |
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