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Genotype‐phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly syndrome characterised by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioural problems, and malformations of the upper extremities. Recently mutations in NIPBL, the hu...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2006
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2564552/ https://ncbi.nlm.nih.gov/pubmed/16236812 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.038240 |
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