Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 1, 2012, Pages 155-158

  Mroch, Amelia R ^a   Laudenschlager, Mark ^a   Flanagan, Jason D ^a  

^a UNIVERSITY OF SOUTH DAKOTA   (United States)

Author keywords

FH gene deletion; Fumarase deficiency; Fumarate hydratase deficiency; Krebs cycle; Liver pathology; Mitochondria; Prenatal diagnosis

Indexed keywords

ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CORPUS CALLOSUM AGENESIS; DEATH; DISEASE COURSE; ELECTRON MICROSCOPY; FH GENE; FUMARASE DEFICIENCY; GENE; GENE DELETION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; INFANT; INTRAHEPATIC CHOLESTASIS; LIVER; MALE; METABOLIC ACIDOSIS; NEWBORN; PERINATAL PERIOD; POINT MUTATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ACIDOSIS; AGENESIS OF CORPUS CALLOSUM; FATAL OUTCOME; FUMARATE HYDRATASE; GENE DELETION; HUMANS; HYDROCEPHALUS; INFANT, NEWBORN; LIVER; MALE; METABOLISM, INBORN ERRORS; MUSCLE HYPOTONIA; POINT MUTATION; PRENATAL DIAGNOSIS; PSYCHOMOTOR DISORDERS;

EID: 84355161580     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34344     Document Type: Article

References (8)

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