De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Genetics in medicine : official journal of the American College of Medical Genetics
| Authors | |
| Year of Publication | 2023
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| Journal | Genetics in medicine : official journal of the American College of Medical Genetics
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| Pages | 100964
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| Date Published | 09/2023
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| ISSN | 1530-0366
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| DOI | 10.1016/j.gim.2023.100964
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| PubMed ID | 37728613
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| Links |