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American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 465 - 469
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions... 
microcephaly | RNU4ATAC | Lowry Wood syndrome | skeletal dysplasia | epiphyseal dysplasia | TAYBI-LINDER SYNDROME | DEVELOPMENTAL DISORDER | OSTEODYSPLASTIC PRIMORDIAL DWARFISM | SHORT STATURE | NYSTAGMUS | U4ATAC SNRNA | GENETICS & HEREDITY | PATIENT | MOPD I | ASSOCIATION | Retinal Diseases - genetics | Microcephaly - genetics | Humans | Child, Preschool | Mental Retardation, X-Linked - physiopathology | Fetal Growth Retardation - genetics | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Cardiomyopathies - genetics | Cardiomyopathies - physiopathology | Mental Retardation, X-Linked - genetics | Osteochondrodysplasias - genetics | RNA, Small Nuclear - genetics | Female | Microcephaly - physiopathology | Dwarfism - physiopathology | Developmental Disabilities - physiopathology | Fetal Growth Retardation - physiopathology | Intellectual Disability - physiopathology | Dwarfism - genetics | Osteochondrodysplasias - physiopathology | Phenotype | Immunologic Deficiency Syndromes - physiopathology | Adolescent | Immunologic Deficiency Syndromes - genetics | Mutation | Growth Disorders - genetics | Retinal Diseases - physiopathology | Growth Disorders - physiopathology | Medicine, Experimental | Medical research | Dysplasia | Genetic aspects | Immunodeficiency | Dwarfism | Microencephaly | Etiology | Bone dysplasia | Skeleton | Microcephaly | Index Medicus
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
European Journal of Medical Genetics, ISSN 1769-7212, 2016, Volume 59, Issue 11, pp. 577 - 583
Abstract Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized... 
Medical Education | Raine syndrome | FAM20C gene | Kohlschutter-Tonz syndrome | OSTEOSCLEROTIC BONE DYSPLASIA | DENTINOGENESIS | GENETICS & HEREDITY | FAM20C | MUTATIONS | AMELOGENESIS | Cleft Palate - diagnosis | Microcephaly - genetics | Seizures - genetics | Bone Diseases, Developmental - mortality | Casein Kinase I - genetics | Humans | Dementia - diagnosis | Dementia - physiopathology | Learning Disorders - physiopathology | Male | Cleft Palate - genetics | Epilepsy - mortality | Microcephaly - mortality | Abnormalities, Multiple - mortality | Amelogenesis Imperfecta - genetics | Bone Diseases, Developmental - genetics | Epilepsy - physiopathology | Exophthalmos - mortality | Dementia - genetics | Bone Diseases, Developmental - physiopathology | Osteosclerosis - mortality | Seizures - physiopathology | Amelogenesis Imperfecta - diagnosis | Exophthalmos - genetics | Amelogenesis Imperfecta - mortality | Epilepsy - genetics | Female | Microcephaly - physiopathology | Osteosclerosis - genetics | Abnormalities, Multiple - genetics | Diagnosis, Differential | Cleft Palate - mortality | Osteosclerosis - diagnosis | Amelogenesis Imperfecta - physiopathology | Extracellular Matrix Proteins - genetics | Microcephaly - diagnosis | Exophthalmos - physiopathology | Cleft Palate - physiopathology | Abnormalities, Multiple - physiopathology | Exophthalmos - diagnosis | Dementia - mortality | Epilepsy - diagnosis | Phenotype | Abnormalities, Multiple - diagnosis | Adolescent | Learning Disorders - genetics | Osteosclerosis - physiopathology | Biodegradation | Dysplasia | Learning disabilities | Diagnosis | Seizures (Medicine) | Casein | Index Medicus
Journal Article
Clinical genetics, ISSN 0009-9163, 2016, Volume 90, Issue 6, pp. 550 - 555
Journal Article
Human molecular genetics, ISSN 0964-6906, 12/2015, Volume 24, Issue 23, pp. 6603 - 6613
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2016, Volume 53, Issue 3, pp. 152 - 162
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 637 - 648
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2016, Volume 170, Issue 5, pp. 1302 - 1307
Bosma arhinia microphthalmia syndrome (Bosma syndrome) (OMIM 603457) is a congenital condition characterized by microphthalmia with coloboma, arhinia and... 
arhinia | microphthalmia | coloboma | Bosma arhinia microphthalmia syndrome | Coloboma | Arhinia | Microphthalmia | NOSE | GENETICS & HEREDITY | ABSENCE | CONGENITAL ARHINIA | INFANT | Facial Bones - abnormalities | Olfactory Bulb - diagnostic imaging | Nose - diagnostic imaging | Nose - abnormalities | Microcephaly - genetics | Microphthalmos - genetics | Humans | Coloboma - genetics | Corneal Opacity - physiopathology | Male | Corneal Opacity - diagnostic imaging | Intellectual Disability - genetics | Adult | Microcephaly - physiopathology | Facial Bones - diagnostic imaging | Facial Bones - pathology | Brain Diseases, Metabolic, Inborn - genetics | Abnormalities, Multiple - genetics | Coloboma - diagnostic imaging | Nose - physiopathology | Microphthalmos - diagnostic imaging | Olfactory Bulb - pathology | Coloboma - physiopathology | Choanal Atresia - genetics | Intellectual Disability - diagnostic imaging | Choanal Atresia - diagnostic imaging | Choanal Atresia - physiopathology | Microcephaly - diagnostic imaging | Brain Diseases, Metabolic, Inborn - physiopathology | Corneal Opacity - genetics | Abnormalities, Multiple - physiopathology | Intellectual Disability - physiopathology | Magnetic Resonance Imaging | Brain Diseases, Metabolic, Inborn - diagnostic imaging | Microphthalmos - physiopathology | Somatotropin | Index Medicus
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2016, Volume 59, Issue 10, pp. 522 - 525
Abstract Mutations in MECP2 (MIM #312750), located on Xq28 and encoding a methyl CpG binding protein, are classically associated with Rett syndrome in female... 
Medical Education | X-linked intellectual disability | PPM-X syndrome | MECP2 gene | Rett syndrome | Angelman-like phenotype | MENTAL-RETARDATION | RETT-SYNDROME | GENE | MOUSE MODEL | GENETICS & HEREDITY | Rett Syndrome - complications | Mental Retardation, X-Linked - complications | Microcephaly - genetics | Humans | Middle Aged | Genetic Diseases, X-Linked - complications | Mental Retardation, X-Linked - physiopathology | Intellectual Disability - complications | Male | Epilepsy - physiopathology | Methyl-CpG-Binding Protein 2 - genetics | Ocular Motility Disorders - genetics | Intellectual Disability - genetics | Mental Retardation, X-Linked - genetics | Adult | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - genetics | Microcephaly - physiopathology | Ataxia - genetics | Genetic Diseases, X-Linked - physiopathology | Ataxia - physiopathology | Microcephaly - complications | Genes, X-Linked - genetics | Rett Syndrome - physiopathology | Epilepsy - complications | Intellectual Disability - physiopathology | Phenotype | Pedigree | Muscle Spasticity - complications | Aged | Ataxia - complications | Muscle Spasticity - physiopathology | Ocular Motility Disorders - complications | Ocular Motility Disorders - physiopathology | Rett Syndrome - genetics | Muscle Spasticity - genetics | Family | Genetic aspects | Mental illness | Language acquisition | Protein binding | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 07/2013, Volume 21, Issue 7, pp. 736 - 742
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1843 - 1848
Journal Article