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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Bibliografiske detaljer
Main Authors: Bhuiyan, Z A, Klein, M, Hammond, P, van Haeringen, A, Mannens, M M A M, Van Berckelaer‐Onnes, I, Hennekam, R C M
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2006
Fag:
Original Article
Online adgang: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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