A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia - van Kogelenberg, Margriet; Lerone, Margherita; De Toni, Teresa; Divizia, Maria T.; de Brouwer, Arjan P.M.; Veltman, Joris A.; van Bokhoven, Hans; Robertson, Stephen P. (American journal of medical genetics. Part A, 2011)
Keywords: Biological and medical sciences; Child; Child, Preschool; Choline-Phosphate Cytidylyltransferase - genetics; Chromosome Deletion; Chromosomes, Human, X; Cortex; Craniosynostoses - diagnosis; Craniosynostoses - genetics; Craniosynostosis; Diseases of the osteoarticular system; Facies; Fontaine-Farriaux syndrome; genomics; Hemizygosity; Humans; Infant; Infants; Kruppel-Like Transcription Factors - genetics; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical genetics; Medical sciences; Neurodevelopmental disorders; periventricular nodular heterotopia; Periventricular Nodular Heterotopia - diagnosis; Periventricular Nodular Heterotopia - genetics; Phenotype; Protein-Serine-Threonine Kinases - genetics; Syndrome; Ventricle (lateral); X chromosomal interstitial deletion; X-chromosome inactivation; Chromosomal aberration; X chromosomal interstitial deletion; Nervous system diseases; Craniosynostosis; Diseases of the osteoarticular system; periventricular nodular heterotopia; Skull disease; Deletion; Dysostosis; Interstitial; Fontaine—Farriaux syndrome