Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)

Human Mutation

Volumn 38, Issue 11, 2017, Pages 1477-1484

  Wambach, Jennifer A ^a   Stettner, Georg M ^b,c   Haack, Tobias B ^d,e,f   Writzl, Karin ^g   Škofljanec, Andreja ^g   Maver, Aleš ^g   Munell, Francina ^h   Ossowski, Stephan ^d,i,j   Bosio, Mattia ^i,j   Wegner, Daniel J ^a   Shinawi, Marwan ^a   Baldridge, Dustin ^a   Alhaddad, Bader ^e   Strom, Tim M ^e,f   Grange, Dorothy K ^a   Wilichowski, Ekkehard ^b   Troxell, Robin ^k   Collins, James ^k   Warner, Barbara B ^a,l   Schmidt, Robert E ^l   Pestronk, Alan ^l   Cole, F Sessions ^a   Steinfeld, Robert ^b   more..

^a ST LOUIS CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d UNIVERSITY OF TÜBINGEN   (Germany)

^e TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^f INSTITUTE OF EPIDEMIOLOGY   (Germany)

^g UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^h HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

ⁱ BARCELONA INSTITUTE OF SCIENCE AND TECHNOLOGY   (Spain)

^j UNIVERSITAT POMPEU FABRA   (Spain)

^k Mercy Hospital   (United States)

^l WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

AMC; arthrogryposis multiplex congenital; GLDN; gliomedin

Indexed keywords

DNA; EPINEPHRINE; GLIOMEDIN; PROTEIN; UNCLASSIFIED DRUG; GLDN PROTEIN, HUMAN; MEMBRANE PROTEIN; NERVE PROTEIN;

AKINESIA; ARTHROGRYPOSIS; ARTICLE; ARTIFICIAL VENTILATION; ATELECTASIS; BRAIN HEMORRHAGE; BREECH PRESENTATION; CASE REPORT; CENTRONUCLEAR MYOPATHY; CESAREAN SECTION; CLINICAL ARTICLE; CLUBFOOT; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL CONTRACTURE SYNDROME 11; CONTRACTURE; CORONARY ARTERY FISTULA; COUGHING; DIAPHRAGM PARALYSIS; DIET SUPPLEMENTATION; DYSPHAGIA; ECTOPIC URETER; FEBRILE CONVULSION; FEMALE; GENE FREQUENCY; GENOTYPE PHENOTYPE CORRELATION; HIP DISLOCATION; HUMAN; HYDRAMNIOS; HYPERCAPNIA; HYPOXEMIA; INTENSIVE CARE; INTRAUTERINE GROWTH RETARDATION; INTUBATION; JOINT CONTRACTURE; KIDNEY CALCIFICATION; LONG TERM SURVIVAL; LUNG DISEASE; LUNG HEMORRHAGE; LUNG HYPOPLASIA; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; NEONATAL INTENSIVE CARE UNIT; NEUROPATHY; NEWBORN; NUTRITIONAL SUPPORT; PARESIS; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; RESUSCITATION; SCOLIOSIS; SENSORY NEUROPATHY; SKIN EDEMA; SPINAL CORD DISEASE; STOMACH TUBE; STOP CODON; THROAT DISEASE; TRACHEOMALACIA; TRACHEOSTOMY; UPPER RESPIRATORY TRACT INFECTION; WHOLE EXOME SEQUENCING; BIOPSY; DNA MUTATIONAL ANALYSIS; FATALITY; GENETIC ASSOCIATION STUDY; GENETICS; INFANT; LETHAL GENE; MORTALITY; MUTATION; PEDIGREE; PHENOTYPE; SPINAL ROOT; ULTRASTRUCTURE;

ARTHROGRYPOSIS; BIOPSY; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; GENES, LETHAL; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; SPINAL NERVE ROOTS; WHOLE EXOME SEQUENCING;

EID: 85030831813     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23297     Document Type: Article

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