X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease

X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehyd...

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Detalles Bibliográficos
Autores principales: Coman, David, Fullston, Tom, Shoubridge, Cheryl, Leventer, Richard, Wong, Flora, Nazaretian, Simon, Simpson, Ian, Gecz, Josef, McGillivray, George
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2017
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680935/
https://www.ncbi.nlm.nih.gov/pubmed/29152528
http://dx.doi.org/10.1177/2329048X17738625

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