8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.
Copy number variation studies of known disorders have the potential to improve the characterization of clinical phenotypes and may help identifying candidate genes and their pathways. The authors described a child with congenital heart disease, microcephaly, facial dysmorphisms, developmental delay,...
| Publicado en: | Journal of Developmental & Behavioral Pediatrics Vol. 36; no. 7; pp. 544 - 549 |
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| Autores principales: | , , , |
| Formato: | case study Journal Article |
| Publicado: |
Lippincott Williams & Wilkins
Sep2015
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| Acceso en línea: | Ver este registro en EBSCOhost |