A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis

European Journal of Pediatrics

Volumn 168, Issue 12, 2009, Pages 1449-1454

  Besbas, Nesrin ^a   Draaken, Markus ^b   Ludwig, Michael ^b   Deren, Ozgur ^a   Orhan, Diclehan ^a   Bilginer, Yelda ^a   Ozaltin, Fatih ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b Institut für Klinische Chemie und Pharmakologie   (Germany)

Author keywords

Autosomal recessive; CLCN7; Osteopetrosis; Prenatal diagnosis; Tubulopathy

Indexed keywords

ALBERS SCHOENBERG DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; BLOOD CHEMISTRY; BLOOD SAMPLING; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CLCN7 GENE; ECHOGRAPHY; GENE; GENE MUTATION; GENE SEQUENCE; GESTATIONAL AGE; GLIOSIS; HEPATOSPLENOMEGALY; HUMAN; KIDNEY TUBULE DISORDER; MALE; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA GYRATE ATROPHY;

CHILD, PRESCHOOL; CHLORIDE CHANNELS; CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, AGAR GEL; FATAL OUTCOME; GENETIC VARIATION; HUMANS; MALE; MUTATION, MISSENSE; OSTEOPETROSIS; PRENATAL DIAGNOSIS; RESTRICTION MAPPING;

EID: 70449517477     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-0945-9     Document Type: Article

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