16 сент. 2005 г. · Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features. Figure 1. [Classic CdLS... · Table 1. [Molecular Genetic... · Table 6. [Treatment of... |
High & arched palate w/clefting, 30% ; Congenital heart defects, 30%, Most commonly pulmonic or peripheral pulmonic stenosis, VSD, & ASD ; Seizures, 25%. |
The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, ... |
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism, hypertrichosis, mild to profound intellectual disability. |
11 июл. 2018 г. · Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial ... |
Cornelia de Lange syndrome is a multisystem developmental disorder characterized by distinctive facial dysmorphism, pre- and postnatal growth failure, ... |
Seven genes have been found to be associated with CdLS including the NIPBL gene on chromosome 5, the SMC1A gene on the X chromosome, the SMC3 gene on ... |
Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation, developmental delay, hirsutism, and limb abnormalities. |
| Некоторые результаты поиска могли быть удалены в соответствии с местным законодательством. Подробнее... |
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