Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS

We describe the clinical characterization, molecular analyses, and genetic mapping of a distinct genetic condition characterized by craniosynostosis, delayed closure of the fontanel, cranial defects, clavicular hypoplasia, anal and genitourinary malformations, and skin eruption. We have identified s...

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Bibliografische gegevens
Hoofdauteurs: Mendoza-Londono, Roberto , Lammer, Edward , Watson, Rosemarie , Harper, John , Hatamochi, Atsushi , Hatamochi-Hayashi, Saori , Napierala, Dobrawa , Hermanns, Pia , Collins, Sinead , Roa, Benjamin B. , Hedge, Madhuri R. , Wakui, Keiko , Nguyen, Diep , Stockton, David W. , Lee, Brendan 
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society of Human Genetics 2005
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Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226190/
https://ncbi.nlm.nih.gov/pubmed/15924278
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