Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia
Focal dermal hypoplasia is a rare genetic disease characterized 8‐year‐old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia.
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| Veröffentlicht in: | Congenital anomalies 2016-05, Vol.56 (3), p.138-140 |
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| container_end_page | 140 |
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| container_title | Congenital anomalies |
| container_volume | 56 |
| creator | Ramirez‐Botero, Andres Felipe Eichler, Sabrina Rolfs, Arndt Pachajoa, Harry |
| description | Focal dermal hypoplasia is a rare genetic disease characterized 8‐year‐old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia. |
| doi_str_mv | 10.1111/cga.12146 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0914-3505 |
| ispartof | Congenital anomalies, 2016-05, Vol.56 (3), p.138-140 |
| issn | 0914-3505 1741-4520 |
| language | eng |
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| source | Wiley Journals |
| subjects | focal dermal hypoplasia Genetic counseling intellectual disability Mutation PORCN gene |
| title | Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia |
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