Genotype-Phenotype Correlation of PLOD2 Skeletal Dysplasias Using Structural Information

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias

Neuronal migration disorders are human (or animal) diseases that result from a disruption in the normal movement of neurons from their original birth site to their final destination during early development. As a consequence, the neurons remain somewhere along their migratory route, their location depending on the pathological mechanism and its severity. The neurons form characteristic abnormal...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

TBC1D24 genotype–phenotype correlation

OBJECTIVE To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). RESULTS Forty-eight patients were included (28 men, 20 women, average age 21 year...

Skeletal Dysplasias

This is a good radiological text covering occult traumatic lesions of the cervical, lower thoracic, and lumbar spine, especially for residents in radiology, neurosurgery, neurology, and orthopedics. The book reviews a topic which has not been widely covered in the literature. The major emphasis of this expanded second edition is the cervical spine, comprising seven of its ten chapters. A new ch...

Dermatoglyphs in skeletal dysplasias.

Finger and palm print patterns (dermatoglyphs) are formed in very early pregnancy, at about the same time the limbs are developing, and their formation probably depends upon the surface contours of the palms and soles during morphogenesis. Dermatoglyphs are useful in skeletal dysplasias for the detection and study of syndactyly and symphalangism, for dating the onset and the dysplasias, for dem...