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American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2139 - 2157
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants... 
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | AND/OR TRACHEOESOPHAGEAL FISTULA | DESCRIPTIVE EPIDEMIOLOGY | PREVALENCE | CONGENITAL-ANOMALIES | ENVIRONMENTAL-FACTORS | MALFORMATIONS | BIRTH-DEFECTS PREVENTION | GENETICS & HEREDITY | EXPERIENCE | PRENATAL-DIAGNOSIS | Chromosome Disorders - epidemiology | Limb Deformities, Congenital - genetics | Congenital Abnormalities - epidemiology | Esophageal Atresia - epidemiology | Humans | Congenital Abnormalities - physiopathology | Stillbirth | Limb Deformities, Congenital - physiopathology | Male | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Anal Canal - physiopathology | Abnormalities, Multiple - epidemiology | Female | Esophageal Atresia - genetics | Trachea - physiopathology | Esophageal Atresia - complications | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Kidney - physiopathology | Trachea - abnormalities | Esophageal Atresia - physiopathology | Chromosome Disorders - complications | Spine - physiopathology | Fetus - physiopathology | Esophagus - abnormalities | Abnormalities, Multiple - physiopathology | Anal Canal - abnormalities | Pregnancy | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Limb Deformities, Congenital - complications | Heart Defects, Congenital - physiopathology | Chromosome Disorders - genetics | Development and progression | Birth defects | Genetic disorders | Etiology | Congenital defects | Hernias | Fetuses | CHARGE syndrome | Infants | Sudden infant death syndrome--SIDS | Esophagus
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial... 
BLEPHAROPHIMOSIS | LIGASE UBE3B | MUTATIONS | GENE | OCULOCEREBROFACIAL SYNDROME | GENETICS & HEREDITY | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 925 - 933
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1369 - 1373
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 12/2006, Volume 2, Issue 12, pp. 2116 - 2130
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/2019, Volume 116, Issue 9, pp. 3662 - 3667
Kaufman oculocerebrofacial syndrome (KOS) is a recessive neurodevelopmental disorder characterized by intellectual disability and lack of speech. KOS is caused... 
BCKDK | Ubiquitination | Intellectual disability | UBE3B | Autism spectrum disorder | AUTISM | DE-NOVO MUTATIONS | ubiquitination | MULTIDISCIPLINARY SCIENCES | KAUFMAN OCULOCEREBROFACIAL SYNDROME | SPECTRUM | autism spectrum disorder | intellectual disability | CHILDREN | Limb Deformities, Congenital - genetics | Protein Kinases - genetics | Microcephaly - genetics | Humans | Limb Deformities, Congenital - physiopathology | Male | Intellectual Disability - genetics | Facies | Adult | Microcephaly - physiopathology | Language Development Disorders - physiopathology | Child | Language Development Disorders - genetics | Brain - physiopathology | Ubiquitin - genetics | Eye Abnormalities - genetics | Mice, Knockout | Intellectual Disability - physiopathology | Phenotype | Animals | Metabolic Networks and Pathways | Adolescent | Eye Abnormalities - physiopathology | Mice | Mutation | Ubiquitin-Protein Ligases - genetics | Tricarboxylic acid cycle | Growth rate | Intellectual disabilities | Liver | Chain branching | Cortex (somatosensory) | Neurodevelopmental disorders | Mitochondria | Pathways | Metabolites | Grip strength | Ubiquitin-protein ligase | Hypoplasia | Muscles | Metabolism | Patients | Substrates | Corpus callosum | Skeletal muscle | Hereditary diseases | Morphology | Speech | Metabolic pathways | Electron transport | Synapses | Biological Sciences
Journal Article