Cytogenetic diagnosis of Pallister Killian syndrome
Introduction: Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual disability syndrome caused by tissue-restricted, mosaic tetrasomy 12p. The most common signs are facial dysmorphism, rhizomelic shortening of the extremities, pigmentary mosaic in skin; craniofacial man...
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| Autores principales: | , , , , , , , , |
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| Formato: | Artículo |
| Lenguaje: | inglés |
| Publicado: |
2024
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| Acceso en línea: | https://dialnet.unirioja.es/servlet/oaiart?codigo=10159694 |
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