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Further contributions towards the molecular analysis of NIPBL and SMC1A genes i...
Pinto da Costa, Eurico; Oliveira, Jorge; Silva, João; Santos, RosárioResumo publicado em: European Journal of Human Genetics. 2012 Jun 1;20 Suppl 1: Sec1:298 ; Cornelia de Lange Syndrome [CdLS (MIM#122470)] is a rare multisystemic disorder, characterized by a typical phenotype that includes distinctive facial dysmorphism, hirsutism, growth and psychomotor developmental delay, abnormalities of the upper extremities, and relatively frequent gastrointestinal and congenital heart d...
Data: 2012
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Origem: Repositório Científico do Instituto Nacional de Saúde
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