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Pitt–Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge
Pitt–Hopkins syndrome is an emerging neurodevelopmental disorder caused by haploinsufficiency of the TCF4 gene on chromosome 18q21. It is characterized by severe intellectual disability, seizures, microcephaly, constipation and a distinctive facial gestalt. Although the overlapping phenotype of micr...
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| Опубликовано в: : | J Pediatr Genet |
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| Главные авторы: | , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Georg Thieme Verlag KG
2015
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| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4918722/ https://ncbi.nlm.nih.gov/pubmed/27617128 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1564570 |
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