A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome
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| Veröffentlicht in: | American journal of medical genetics. Part A 2014-11, Vol.164A (11), p.2958-2960 |
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| container_end_page | 2960 |
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| container_issue | 11 |
| container_start_page | 2958 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 164A |
| creator | Seoighe, Deirdre Máire Gadancheva, Veselina Regan, Regina McDaid, Jennifer Brenner, Clare Ennis, Sean Betts, David Richard Eadie, Patricia Anne Lynch, Sally Ann |
| description | |
| doi_str_mv | 10.1002/ajmg.a.36712 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2958-2960 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_proquest_journals_1613402074 |
| source | Wiley Online Library - AutoHoldings Journals; MEDLINE |
| subjects | Brachydactyly - diagnosis Brachydactyly - genetics Carpal Bones - abnormalities Chromosomes, Human, Pair 5 - genetics Elbow Joint - abnormalities Fingers - abnormalities Genetic Association Studies Hand Deformities, Congenital - diagnosis Hand Deformities, Congenital - genetics Humans Infant, Newborn Male Paired Box Transcription Factors - genetics Phenotype Synostosis - diagnosis Synostosis - genetics Wrist Joint - abnormalities |
| title | A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome |
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