X‐linked VACTERL‐H caused by deletion of exon 3 in FANCB: A case report
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| Veröffentlicht in: | Congenital anomalies 2018-09, Vol.58 (5), p.171-172 |
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| container_end_page | 172 |
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| container_issue | 5 |
| container_start_page | 171 |
| container_title | Congenital anomalies |
| container_volume | 58 |
| creator | Watanabe, Norikazu Tsutsumi, Seiji Miyano, Yuki Sato, Hidenori Nagase, Satoru |
| description | |
| doi_str_mv | 10.1111/cga.12262 |
| format | Article |
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| ispartof | Congenital anomalies, 2018-09, Vol.58 (5), p.171-172 |
| issn | 0914-3505 1741-4520 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1975996591 |
| source | MEDLINE; Access via Wiley Online Library |
| subjects | Base Sequence Cardiovascular Abnormalities - diagnosis Cardiovascular Abnormalities - genetics Cardiovascular Abnormalities - pathology Case reports Digestive System Abnormalities - diagnosis Digestive System Abnormalities - genetics Digestive System Abnormalities - pathology Exons Fanconi Anemia Complementation Group Proteins - genetics Female Gene Library Genetic Diseases, X-Linked - diagnosis Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - pathology Humans Hydrocephalus - congenital Hydrocephalus - diagnosis Hydrocephalus - genetics Hydrocephalus - pathology Infant Infant Death Infant, Newborn Male Musculoskeletal Abnormalities - diagnosis Musculoskeletal Abnormalities - genetics Musculoskeletal Abnormalities - pathology Pregnancy Sequence Deletion Whole Genome Sequencing |
| title | X‐linked VACTERL‐H caused by deletion of exon 3 in FANCB: A case report |
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