Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

Background: We report a consanguineous Sudanese family whose two affected sons presented with a lethal disorder characterised by severe neonatal lactic acidosis, hypertonia, microcephaly and intractable seizures. One child had additional unique features of periventricular calcification, abnormal pte...

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Publicat a:JIMD Rep
Autors principals: Casey, Jillian P., Crushell, Ellen, Thompson, Kyle, Twomey, Eilish, He, Langping, Ennis, Sean, Philip, Roy K., Taylor, Robert W., King, Mary D., Lynch, Sally Ann
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2015
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5580737/
https://ncbi.nlm.nih.gov/pubmed/26238252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_479
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