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A Case of Lateral Meningocele Syndrome without Lateral Meningoceles
Molecular Syndromology<b><i>Introduction:</i></b> Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is caused by pathogenic variants in exon 33 of <i>NOTCH3</i>. Variants in this final exon of <i>NOTCH3</i> interrupt the regulatory PEST domain, leading to enhanced <i>NOTCH3</i> signaling due to ...
Derek, Rubadeux +2 more
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Intrathoracic Meningoceles and Neurofibromatosis
Archives of Neurology, 1979We describe here four additional cases of intrathoracic meningoceles associated with neurofibromatosis, bringing the total number of reported cases of thoracic meningoceles to 88. Seventy-five (85%) have been associated with neurofibromatosis. Possibly, both dural and regional vertebral dysplasia are intrinsic to neurofibromatosis and contribute to the
S, Erkulvrawatr +4 more
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HEREDITARY DEFECT OF THE SACRUM AND COCCYX WITH ANTERIOR SACRAL MENINGOCELE
Acta Paediatrica, International Journal of Paediatrics, 1969J Cohn, Jørgen Cohn
exaly