Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1

Molecular Genetics and Metabolism

Volumn 112, Issue 4, 2014, Pages 310-316

  Fischer, Björn ^a,b   Callewaert, Bert ^c   Schröter, Phillipe ^a   Coucke, Paul J ^c   Schlack, Claire ^a   Ott, Claus Eric ^a,b   Morroni, Manrico ^d   Homann, Wolfgang ^e   Mundlos, Stefan ^a,b   Morava, Eva ^f   Ficcadenti, Anna ^d   Kornak, Uwe ^a,b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^e Christliches Kinderhospital Osnabrück   (Germany)

^f TULANE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

ALDH18A1; Autosomal recessive cutis laxa; Homozygous deletion 10q24.3; Mitochondria; Progeroid features; PYCR1

Indexed keywords

ARGININE; ASPARTIC ACID; CITRULLINE; ENZYME; GLUTAMIC ACID; ORNITHINE; PROLINE; PYROLLIN 5 CARBOXYLATE REDUCTASE 1; PYROLLIN 5 CARBOXYLATE SYNTHASE 1; SYNTHETASE; UNCLASSIFIED DRUG; ALDEHYDE DEHYDROGENASE; AMINO ACID; DELTA1-PYRROLINE-5-CARBOXYLATE SYNTHASE, HUMAN; MESSENGER RNA;

ARTICLE; AUTOSOMAL RECESSIVE CUTIS LAXA; BILATERAL HEARING LOSS; CASE REPORT; CATARACT; CHILD; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; CUTIS LAXA; DISLOCATION; ELASTIC FIBER; FAILURE TO THRIVE; FEMALE; FOOT MALFORMATION; GENE DELETION; GENE SEQUENCE; HAND MALFORMATION; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOPLASIA; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; JOINT CONTRACTURE; JOINT LAXITY; LEARNING DISORDER; MALE; MITOCHONDRION; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PATENT DUCTUS ARTERIOSUS; POINT MUTATION; PRIORITY JOURNAL; PROGNATHIA; PROMINENT EAR; SKIN BIOPSY; SKIN FIBROBLAST; TRANSMISSION ELECTRON MICROSCOPY; BLOOD; CARDIOVASCULAR DISEASE; COMPLICATION; FATALITY; FIBROBLAST; GENETICS; HOMOZYGOTE; METABOLISM; MOLECULAR GENETICS; NEWBORN; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; SKIN; ULTRASTRUCTURE;

ALDEHYDE DEHYDROGENASE; AMINO ACIDS; BASE SEQUENCE; CARDIOVASCULAR DISEASES; CHILD, PRESCHOOL; CUTIS LAXA; FATAL OUTCOME; FEMALE; FIBROBLASTS; GENE DELETION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; RNA, MESSENGER; SKIN;

EID: 84905240924     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.05.003     Document Type: Article

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