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Journal Article
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 5/2017, Volume 32, Issue 6, pp. 543 - 549
Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at... 
microcephaly | seizures | spasticity | Neu-Laxova syndrome | PGDH | INTELLECTUAL DISABILITY | DISORDERS | PEDIATRICS | NEU-LAXOVA-SYNDROME | 3-PHOSPHOGLYCERATE | CHILD | CLINICAL NEUROLOGY | Limb Deformities, Congenital - genetics | Abnormalities, Multiple - etiology | Fetal Growth Retardation - diagnostic imaging | Microcephaly - genetics | Seizures - genetics | Ichthyosis - etiology | Humans | Brain Diseases - genetics | Carbohydrate Metabolism, Inborn Errors - complications | Child, Preschool | Limb Deformities, Congenital - therapy | Family Health | Fetal Growth Retardation - genetics | Infant | Male | Psychomotor Disorders - complications | Serine - biosynthesis | Carbohydrate Metabolism, Inborn Errors - genetics | Seizures - complications | Seizures - diagnostic imaging | Young Adult | Psychomotor Disorders - genetics | Ichthyosis - diagnostic imaging | Brain Diseases - therapy | Fetal Growth Retardation - etiology | Ichthyosis - genetics | Female | Microcephaly - therapy | Brain Diseases - etiology | Carbohydrate Metabolism, Inborn Errors - diagnostic imaging | Psychomotor Disorders - diagnostic imaging | Abnormalities, Multiple - genetics | Microcephaly - complications | Abnormalities, Multiple - diagnostic imaging | Brain Diseases - diagnostic imaging | Microcephaly - diagnostic imaging | Mutation - genetics | Fetal Growth Retardation - therapy | Phosphoglycerate Dehydrogenase - genetics | Phenotype | Abnormalities, Multiple - therapy | Limb Deformities, Congenital - etiology | Adolescent | Limb Deformities, Congenital - diagnostic imaging | Microcephaly - etiology | Phosphoglycerate Dehydrogenase - deficiency | Ichthyosis - therapy
Journal Article
Journal of Craniofacial Surgery, ISSN 1049-2275, 01/2014, Volume 25, Issue 1, pp. 284 - 294
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 7, p. e22908
Background: Patent ductus arteriosus (PDA) is one of the most common forms of congenital heart disease. Mutations in transcription factor TFAP2B cause Char... 
CARDIAC OUTFLOW TRACT | DEFECTS | CLONING | MULTIDISCIPLINARY SCIENCES | CAUSE CHAR-SYNDROME | MICE | MUTATIONS | EXPRESSION | FACTOR AP-2-BETA | AP-2 TRANSCRIPTION FACTOR | NEURAL CREST CELLS | Luciferases - metabolism | Bone Morphogenetic Protein 4 - genetics | Ductus Arteriosus, Patent - pathology | Humans | Male | Ductus Arteriosus, Patent - metabolism | Promoter Regions, Genetic - genetics | In Situ Hybridization | Heart Septal Defects, Atrial | Heart Defects, Congenital | Ductus Arteriosus, Patent - etiology | Female | Electrophoretic Mobility Shift Assay | Animals, Newborn | Bone Morphogenetic Protein 2 - genetics | Abnormalities, Multiple | Limb Deformities, Congenital - metabolism | Lower Extremity Deformities, Congenital | Mice, Knockout | Phenotype | Animals | Transcription Factor AP-2 - physiology | Upper Extremity Deformities, Congenital | Limb Deformities, Congenital - etiology | Mice | Limb Deformities, Congenital - pathology | Medical research | Embryonic development | Genetic disorders | Analysis | Medicine, Experimental | Bone morphogenetic proteins | Genetic aspects | Congenital heart disease | Research | Heart diseases | Heart | Neonates | Pattern formation | Animal models | Transcription factors | Pathogenesis | Genes | Digits | Defects | Limb buds | Morphogenesis | Proteins | Transfection | Rodents | Capillaries | Cardiovascular system | Bone morphogenetic protein 4 | Congenital diseases | Bone morphogenetic protein 2 | AP-2 protein | Pulmonary arteries | Gene expression | Embryos | Coronary artery disease | Mutants | Pathology | Asymmetry | Lungs | Coronary vessels | Mutation | Veins & arteries
Journal Article
Journal Article
Journal of Pediatric Orthopaedics, ISSN 0271-6798, 01/2015, Volume 35, Issue 1, pp. 100 - 103
Journal Article