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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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| Foilsithe in: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
MDPI
2020
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| Ábhair: | |
| Rochtain Ar Líne: | 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 |
| Clibeanna: |
Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!
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