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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
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2017, Volume 173, Issue 9, pp. 2446 - 2450
Journal Article
Clinical genetics, ISSN 0009-9163, 2016, Volume 90, Issue 6, pp. 550 - 555
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2018, Volume 26, Issue 6, pp. 876 - 885
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2016, Volume 90, Issue 6, pp. 509 - 517
Journal Article
Brain & Development, ISSN 0387-7604, 2016, Volume 39, Issue 1, pp. 67 - 71
Abstract Hypochondroplasia (HCH) is a skeletal dysplasia, characterized by short stature and macrocephaly. Clinical symptoms and radiological and... 
Neurology | Hypochondroplasia | Temporal lobe epilepsy | Epileptic apnea | FGFR3 | Temporal lobe dysgenesis | N540K MUTATION | CLINICAL NEUROLOGY | Limb Deformities, Congenital - genetics | Temporal Lobe - abnormalities | Humans | Child, Preschool | Epilepsy, Temporal Lobe - drug therapy | Epilepsy, Temporal Lobe - physiopathology | Limb Deformities, Congenital - physiopathology | Developmental Disabilities - genetics | Temporal Lobe - diagnostic imaging | Developmental Disabilities - diagnostic imaging | Epilepsy, Temporal Lobe - diagnostic imaging | Lordosis - genetics | Bone and Bones - diagnostic imaging | Epilepsy, Temporal Lobe - genetics | Female | Dwarfism - physiopathology | Abnormalities, Multiple - genetics | Skin Abnormalities - physiopathology | Developmental Disabilities - physiopathology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Diagnosis, Differential | Abnormalities, Multiple - diagnostic imaging | Abnormalities, Multiple - physiopathology | Dwarfism - genetics | Bone and Bones - physiopathology | Phenotype | Temporal Lobe - physiopathology | Limb Deformities, Congenital - diagnostic imaging | Lordosis - diagnostic imaging | Lordosis - physiopathology | Skin Abnormalities - genetics | Dwarfism - diagnostic imaging | Bone and Bones - abnormalities | Skin Abnormalities - diagnostic imaging | Temporal Lobe - drug effects | Genetic aspects | Seizures (Medicine) | Analysis | Epilepsy | Index Medicus
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 2014, Volume 170, Issue 5, pp. 677 - 684
Objective: To assess the prevalence of skeletal dysplasias (SDs) in patients with idiopathic short stature (ISS) or small for gestational age (SGA) status.... 
DIAGNOSIS | GROWTH-HORMONE | ENDOCRINOLOGY & METABOLISM | LERI-WEILL DYSCHONDROSTEOSIS | GENETIC-HETEROGENEITY | DISORDERS | MUTATIONS | HYPOCHONDROPLASIA | DEFICIENCY | CHILDREN | HAPLOINSUFFICIENCY | Limb Deformities, Congenital - genetics | Prevalence | Prospective Studies | Humans | Child, Preschool | Growth Disorders - etiology | Family Health | Fetal Growth Retardation - genetics | Hospitals, Pediatric | Infant | Limb Deformities, Congenital - physiopathology | Male | Bone Diseases, Developmental - genetics | Osteochondrodysplasias - epidemiology | Bone Diseases, Developmental - physiopathology | Genetic Variation | Lordosis - genetics | Osteochondrodysplasias - genetics | Growth Disorders - epidemiology | Hospitals, Teaching | Female | Bone Diseases, Developmental - epidemiology | Child | Dwarfism - physiopathology | France - epidemiology | Fetal Growth Retardation - epidemiology | Fetal Growth Retardation - physiopathology | Lordosis - epidemiology | Dwarfism - genetics | Bone and Bones - physiopathology | Osteochondrodysplasias - physiopathology | Limb Deformities, Congenital - epidemiology | Adolescent | Dwarfism - epidemiology | Infant, Small for Gestational Age | Lordosis - physiopathology | Referral and Consultation | Bone and Bones - abnormalities | Growth Disorders - genetics | Cohort Studies | Growth Disorders - physiopathology | Index Medicus
Journal Article
Cell Metabolism, ISSN 1550-4131, 2006, Volume 4, Issue 3, pp. 235 - 244
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 11/2011, Volume 121, Issue 11, pp. 4383 - 4392
Mutations in human FYVE, RhoGEF, and PH domain-containing 1 (FGD1) cause faciogenital dysplasia (FGDY; also known as Aarskog syndrome), an X-linked disorder... 
CELL-POLARITY | CDC42 | MEDICINE, RESEARCH & EXPERIMENTAL | AARSKOG-SCOTT-SYNDROME | OSTEOBLAST DIFFERENTIATION | CAENORHABDITIS-ELEGANS | EXCRETORY CELL | TYROSINE KINASE | ACTIVATION LOOP | NUCLEOTIDE EXCHANGE FACTOR | B-RAF | Guanine Nucleotide Exchange Factors - physiology | Genitalia, Male - abnormalities | Bone Development - physiology | Face - abnormalities | Humans | Male | cdc42 GTP-Binding Protein - metabolism | Genitalia, Male - pathology | MAP Kinase Signaling System | Heart Defects, Congenital - genetics | MAP Kinase Kinase Kinases - deficiency | Mice, Mutant Strains | Female | Genetic Diseases, X-Linked - genetics | p38 Mitogen-Activated Protein Kinases - metabolism | Dwarfism - pathology | Genitalia, Male - physiopathology | Dwarfism - physiopathology | Genetic Diseases, X-Linked - physiopathology | Disease Models, Animal | Proteins - physiology | Guanine Nucleotide Exchange Factors - genetics | MAP Kinase Kinase Kinases - genetics | Face - pathology | Mice, Inbred C57BL | Osteoblasts - physiology | Heart Defects, Congenital - pathology | Face - physiopathology | Gene Knock-In Techniques | Mice, Knockout | Proteins - genetics | Dwarfism - genetics | Osteoblasts - pathology | Animals | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Genetic Diseases, X-Linked - pathology | MAP Kinase Kinase Kinases - physiology | Heart Defects, Congenital - physiopathology | Mice | Bone Development - genetics | Enzyme Activation | Mutation | Hand Deformities, Congenital - pathology | Dysplasia | Care and treatment | Growth | Abnormalities | Bones | Genetic aspects | Diagnosis | Research | Genetic regulation | Genitourinary organs | Index Medicus | Abridged Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1152 - 1158
Journal Article
Current Biology, ISSN 0960-9822, 10/2014, Volume 24, Issue 19, pp. 2327 - 2334
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2014, Volume 50, Issue 4, pp. 427 - 430
Journal Article
JCRPE Journal of Clinical Research in Pediatric Endocrinology, ISSN 1308-5727, 12/2016, Volume 8, Issue 4, pp. 432 - 438
Journal Article