P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes
| 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/S2949774423002212 |
| _version_ | 1797342070423158784 |
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| author | Jeremy Hill Kathleen Shields David Rodriguez-Buritica Laura Farach Paul Hillman |
| author_facet | Jeremy Hill Kathleen Shields David Rodriguez-Buritica Laura Farach Paul Hillman |
| author_sort | Jeremy Hill |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:28:06Z |
| format | Article |
| id | doaj.art-f51087cbbe7042c5a5d582c3dbd91452 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:28:06Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-f51087cbbe7042c5a5d582c3dbd914522024-01-27T07:05:33ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100221P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetesJeremy Hill0Kathleen Shields1David Rodriguez-Buritica2Laura Farach3Paul Hillman4McGovern Medical School at the University of Texas Health Science Center at HoustonMcGovern Medical School at the University of Texas Health Science Center at HoustonMcGovern Medical School at the University of Texas Health Science Center at HoustonMcGovern Medical School at the University of Texas Health Science Center at HoustonMcGovern Medical School at the University of Texas Health Science Center at Houstonhttp://www.sciencedirect.com/science/article/pii/S2949774423002212 |
| spellingShingle | Jeremy Hill Kathleen Shields David Rodriguez-Buritica Laura Farach Paul Hillman P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes Genetics in Medicine Open |
| title | P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes |
| title_full | P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes |
| title_fullStr | P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes |
| title_full_unstemmed | P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes |
| title_short | P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes |
| title_sort | p192 heterozygous actb pathogenic variant causing baraitser winter syndrome presenting with tracheal ring intestinal atresia and neonatal diabetes |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423002212 |
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