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Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

Craniosynostosis (CS) refers to the group of craniofacial malformations characterized by the premature closure of one or more cranial sutures. The disorder is clinically and genetically heterogeneous and occurs usually as an isolated trait, but can also be syndromic. In 30–60% of patients, CS is cau...

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Detalhes bibliográficos
Publicado no:J Appl Genet
Main Authors: Sowińska-Seidler, Anna, Olech, Ewelina M., Socha, Magdalena, Larysz, Dawid, Jamsheer, Aleksander
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6060980/
https://ncbi.nlm.nih.gov/pubmed/29845577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13353-018-0447-4
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