Mutations in NDUFB11, encoding a complex i component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

American Journal of Human Genetics

Volumn 96, Issue 4, 2015, Pages 640-650

  Van Rahden, Vanessa A ^a   Fernandez Vizarra, Erika ^b   Alawi, Malik ^a,c,d   Brand, Kristina ^a   Fellmann, Florence ^e   Horn, Denise ^f   Zeviani, Massimo ^b   Kutsche, Kerstin ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b MEDICAL RESEARCH COUNCIL   (United Kingdom)

^c UNIVERSITY OF HAMBURG   (Germany)

^d LEIBNIZ INSTITUTE FOR EXPERIMENTAL VIROLOGY   (Germany)

^e LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; THYROID TRANSCRIPTION FACTOR 1; NDUFB11 PROTEIN, HUMAN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); STOP CODON;

ARTICLE; ATRESIA; AUTOPSY; BRAIN VENTRICLE DILATATION; CHILD; CHROMOSOME XP; CLINICAL ARTICLE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONGESTIVE CARDIOMYOPATHY; CORPUS CALLOSUM AGENESIS; EYE EXAMINATION; FAILURE TO THRIVE; FEMALE; FETUS DEATH; FETUS ECHOGRAPHY; GENE MUTATION; HEART ARREST; HEART TRANSPLANTATION; HEART VENTRICLE FIBRILLATION; HETEROZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; INTRAUTERINE GROWTH RETARDATION; LACRIMAL DUCT ATRESIA; MICROPHTHALMIA WITH LINEAR SKIN DEFECT SYNDROME; MUSCLE HYPOTONIA; MYOPIA; NDUFB11 GENE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PERICARDIAL EFFUSION; PHAKOMATOSIS; PREGNANCY TERMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SEIZURE; STRABISMUS; TACHYCARDIA; THYROID DISEASE; X CHROMOSOME LINKED DISORDER; BRAIN; CONGENITAL SKIN DISEASE; EXOME; GENE SILENCING; GENETICS; HELA CELL LINE; KARYOTYPING; MICROPHTHALMIA; PATHOLOGY; PEDIGREE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON; X CHROMOSOME INACTIVATION;

BRAIN; CODON, NONSENSE; ELECTRON TRANSPORT COMPLEX I; EXOME; FEMALE; GENE KNOCKDOWN TECHNIQUES; GENETIC DISEASES, X-LINKED; HELA CELLS; HUMANS; IMMUNOHISTOCHEMISTRY; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MICROPHTHALMOS; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SKIN ABNORMALITIES; X CHROMOSOME INACTIVATION;

EID: 84926260422     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.02.002     Document Type: Article

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