Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Molecular Genetics and Metabolism

Volumn 110, Issue 3, 2013, Pages 352-361

  Dimopoulou, Aikaterini ^a   Fischer, Björn ^a,b   Gardeitchik, Thatjana ^c   Schröter, Phillipe ^a   Kayserili, Hülya ^d   Schlack, Claire ^a   Li, Yun ^e   Brum, Jaime Moritz ^f   Barisic, Ingeborg ^g   Castori, Marco ^h   Spaich, Christiane ⁱ   Fletcher, Elaine ^j   Mahayri, Zeina ^k   Bhat, Meenakshi ^l   Girisha, Katta M ^m   Lachlan, Katherine ⁿ   Johnson, Diana ^o   Phadke, Shubha ^p   Gupta, Neerja ^q   Simandlova, Martina ^r   Kabra, Madhulika ^q   David, Albert ^s   Nijtmans, Leo ^c   Chitayat, David ^t   Tuysuz, Beyhan ^d   Brancati, Francesco ^u,v   Mundlos, Stefan ^a,b   Van Maldergem, Lionel ^w   Morava, Eva ^c,x   Wollnik, Bernd ^e   Kornak, Uwe ^a,b   more..

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ISTANBUL UNIVERSITY   (Turkey)

^e UNIVERSITY OF COLOGNE   (Germany)

^f SARAH NETWORK OF REHABILITATION HOSPITALS   (Brazil)

^g Croatia   (Croatia)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

ⁱ OLGAHOSPITAL   (Germany)

^j WESTERN GENERAL HOSPITAL   (United Kingdom)

^k Assad University Hospital   (Syrian Arab Republic)

^l Centre for Human Genetics   (India)

^m KASTURBA MEDICAL COLLEGE   (India)

ⁿ PRINCESS ANNE HOSPITAL   (United Kingdom)

^o SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^p SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

^q ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^r UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^s NANTES UNIVERSITY HOSPITAL   (France)

^t MOUNT SINAI HOSPITAL   (Canada)

^u UNIVERSITY OF CHIETI   (Italy)

^v TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^w UNIVERSITÉ DE FRANCHE COMTÉ   (France)

^x TULANE UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

Autosomal recessive cutis laxa; Mitochondria; Proline; PYCR1; Segmental progeroid disorders

Indexed keywords

PYRROLINE 5 CARBOXYLATE REDUCTASE; PYRROLINE 5 CARBOXYLATE REDUCTASE 1; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE CUTIS LAXA; AUTOSOMAL RECESSIVE DISORDER; BRAIN ATROPHY; CATARACT; CINGULATE GYRUS; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL GLAUCOMA; CORPUS CALLOSUM AGENESIS; CUTIS LAXA; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; EPILEPSY; EXON; EXTRAPYRAMIDAL SYMPTOM; FACIES; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; MALE; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPENIA; PREDICTIVE VALUE; PRIORITY JOURNAL; PROGNATHIA; PSYCHOMOTOR RETARDATION; STRABISMUS; SYNDACTYLY;

AUTOSOMAL RECESSIVE CUTIS LAXA; MITOCHONDRIA; PROLINE; PYCR1; SEGMENTAL PROGEROID DISORDERS;

ALLELES; CUTIS LAXA; EXONS; FACIES; GENE ORDER; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MODELS, MOLECULAR; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; PYRROLINE CARBOXYLATE REDUCTASES;

EID: 84885427893     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.08.009     Document Type: Article

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