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Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25

Hydrolethalus syndrome is a recessively inherited lethal malformation syndrome characterized by hydrocephaly with absent midline structures of the brain, micrognathia, polydactyly, and several other abnormalities, mostly in the midline structures. Hydrolethalus syndrome was described in 1981 in Finl...

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Autori principali: Visapää, Ilona, Salonen, Riitta, Varilo, Teppo, Paavola, Paulina, Peltonen, Leena
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 1999
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288242/
https://ncbi.nlm.nih.gov/pubmed/10486328
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