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Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis
Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant condition characterised by metaphyseal striations, macrocephaly, cleft palate, and developmental delay in affected females. Males have a more severe phenotype with multi-organ malformations, and rarely survive. To date, only f...
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| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7760256/ https://ncbi.nlm.nih.gov/pubmed/33265914 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11121439 |
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