Cargando…
A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome
Cornelia de Lange syndrome (CdLS) is a rare syndromic genetic disorder characterized by multiple congenital anomalies with upper limb reduction defects, along with cardiac, gastrointestinal, and genitourinary defects. It is caused by genetic variations in the chromatin regulator genes, most commonly...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171661/ https://www.ncbi.nlm.nih.gov/pubmed/32328333 http://dx.doi.org/10.1155/2020/6482938 |