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A case of de novo 18p deletion syndrome with panhypopituitarism
Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round face). The phenotypic spectrum is wide, encompassing a range of abnormalities from min...
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| Vydáno v: | Ann Pediatr Endocrinol Metab |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Korean Society of Pediatric Endocrinology
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6449612/ https://ncbi.nlm.nih.gov/pubmed/30943682 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2019.24.1.60 |
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