Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

American Journal of Human Genetics

Volumn 91, Issue 5, 2012, Pages 942-949

  Indrieri, Alessia ^a   Van Rahden, Vanessa Alexandra ^b   Tiranti, Valeria ^c   Morleo, Manuela ^a   Iaconis, Daniela ^a   Tammaro, Roberta ^a   D'Amato, Ilaria ^c   Conte, Ivan ^a   Maystadt, Isabelle ^d   Demuth, Stephanie ^e   Zvulunov, Alex ^f   Kutsche, Kerstin ^b   Zeviani, Massimo ^c   Franco, Brunella ^a,g  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c DEPARTMENT OF NEUROSURGERY   (Italy)

^d INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^e Gemeinschaftspraxis für Humangenetik   (Germany)

^f BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^g UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; CYTOCHROME C OXIDASE 7B; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINODACTYLY; CYTOGENETICS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DOWN REGULATION; FEMALE; GENE DELETION; GENE MUTATION; GENE TRANSLOCATION; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE HYPERTROPHY; HUMAN; INTELLECTUAL IMPAIRMENT; LEARNING DISORDER; MICROCEPHALY; MICROPHTHALMIA; MITOCHONDRIAL RESPIRATION; MONOSOMY; NAIL DYSTROPHY; NEWBORN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; ORYZIAS; PHENOTYPE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SHORT STATURE; SKIN DEFECT; X CHROMOSOME;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BASE SEQUENCE; CELL LINE; ELECTRON TRANSPORT COMPLEX IV; FEMALE; GENE EXPRESSION REGULATION; GENES, X-LINKED; GENOTYPE; HUMANS; LYASES; MICROPHTHALMOS; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MUTATION; ORYZIAS; PEDIGREE; PHENOTYPE; SKIN;

ORYZIAS LATIPES; ORYZIINAE; VERTEBRATA;

EID: 84868366941     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.09.016     Document Type: Article

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