Cornelia de Lange syndrome type 2

A form (OMIM:30059)0 of Cornelia de Lange syndrome (CDLS), a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. CDLS is characterised by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation and various other malformations including gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.
Molecular pathology
Defects of SMC1A, which encodes a protein that plays a critical role in the cohesin complex required for chromosome cohesion during cell cycle, cause Cornelia de Lange syndrome type 2.

单词	cornelia de lange syndrome type 2
释义	Cornelia de Lange syndrome type 2 Cornelia de Lange syndrome type 2 A form (OMIM:30059)0 of Cornelia de Lange syndrome (CDLS), a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. CDLS is characterised by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation and various other malformations including gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Molecular pathology Defects of SMC1A, which encodes a protein that plays a critical role in the cohesin complex required for chromosome cohesion during cell cycle, cause Cornelia de Lange syndrome type 2.
随便看	dorsolaterally dorsolateral nucleus dorsolateral plate of neural tube dorsolateral prefrontal cortex dorsolateral sclerosis dorsolateral septal nucleus dorsolateral sulcus dorsolateral tract dorsolumbar dorsomedial dorsomedial hypothalamic nuclei lesions dorsomedial hypothalamic nucleus dorsomedial nucleus dorsomedial nucleus of hypothalamus conventiei organizatiilor de media conventio convention convention 192 convention against chemical weapons convention against torture convention against transnational organized crime conventional conventional activated sludge plant conventional adaptive maximum likelihood sequence detection conventional airfield attack missile