First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa.
| Autor: | Khazanchi R; College of Medicine, University of Nebraska Medical Center., Yetman AT; Division of Cardiology, Department of Pediatrics, Children's Hospital and Medical Center., Sanmann JN; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA., Starr LJ; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Clinical dysmorphology [Clin Dysmorphol] 2020 Jul; Vol. 29 (3), pp. 132-136. |
| DOI: | 10.1097/MCD.0000000000000320 |
| Databáze: | MEDLINE |
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