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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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| Publié dans: | J Med Genet |
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| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
1993
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| Sujets: | |
| Accès en ligne: | 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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