P117: MCF2 missense variant in a patient with an Aarskog-Scott syndrome-like phenotype
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423001462 |
| _version_ | 1797342043269234688 |
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| author | Daniel Benavides Donna Novacic Maria Acosta |
| author_facet | Daniel Benavides Donna Novacic Maria Acosta |
| author_sort | Daniel Benavides |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:27:42Z |
| format | Article |
| id | doaj.art-89e8e321ccdb42f98c0ecd3c587be0fc |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:27:42Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-89e8e321ccdb42f98c0ecd3c587be0fc2024-01-27T07:04:26ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100146P117: MCF2 missense variant in a patient with an Aarskog-Scott syndrome-like phenotypeDaniel Benavides0Donna Novacic1Maria Acosta2Undiagnosed Diseases Program, NIH, NHGRIUndiagnosed Diseases Program, NIH, NHGRIUndiagnosed Diseases Program, NIH, NHGRIhttp://www.sciencedirect.com/science/article/pii/S2949774423001462 |
| spellingShingle | Daniel Benavides Donna Novacic Maria Acosta P117: MCF2 missense variant in a patient with an Aarskog-Scott syndrome-like phenotype Genetics in Medicine Open |
| title | P117: MCF2 missense variant in a patient with an Aarskog-Scott syndrome-like phenotype |
| title_full | P117: MCF2 missense variant in a patient with an Aarskog-Scott syndrome-like phenotype |
| title_fullStr | P117: MCF2 missense variant in a patient with an Aarskog-Scott syndrome-like phenotype |
| title_full_unstemmed | P117: MCF2 missense variant in a patient with an Aarskog-Scott syndrome-like phenotype |
| title_short | P117: MCF2 missense variant in a patient with an Aarskog-Scott syndrome-like phenotype |
| title_sort | p117 mcf2 missense variant in a patient with an aarskog scott syndrome like phenotype |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423001462 |
| work_keys_str_mv | AT danielbenavides p117mcf2missensevariantinapatientwithanaarskogscottsyndromelikephenotype AT donnanovacic p117mcf2missensevariantinapatientwithanaarskogscottsyndromelikephenotype AT mariaacosta p117mcf2missensevariantinapatientwithanaarskogscottsyndromelikephenotype |