Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

American Journal of Human Genetics

Volumn 100, Issue 2, 2017, Pages 281-296

  Oud, Machteld M ^a   Tuijnenburg, Paul ^b   Hempel, Maja ^c   van Vlies, Naomi ^b   Ren, Zemin ^d   Ferdinandusse, Sacha ^b   Jansen, Machiel H ^b   Santer, René ^c   Johannsen, Jessika ^c   Bacchelli, Chiara ^e   Alders, Marielle ^d   Li, Rui ^f   Davies, Rosalind ^e   Dupuis, Lucie ^g   Cale, Catherine M ^h   Wanders, Ronald J A ^b   Pals, Steven T ^d   Ocaka, Louise ^e   James, Chela ^e   Müller, Ingo ^c   Lehmberg, Kai ^c   Strom, Tim ^c,i   Engels, Hartmut ^j   Williams, Hywel J ^e   Beales, Phil ^e   Roepman, Ronald ^a   Dias, Patricia ^k   Brunner, Han G ^a   Cobben, Jan Maarten ^b,l   Hall, Christine ^h   Hartley, Taila ^m   Le Quesne Stabej, Polona ^e   Mendoza Londono, Roberto ^g   Davies, E Graham ^e,h   de Sousa, Sérgio B ^e,n,o   Lessel, Davor ^c   Arts, Heleen H ^a,p   Kuijpers, Taco W ^b   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f MCGILL UNIVERSITY   (Canada)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h GREAT ORMOND STREET HOSPITAL   (United Kingdom)

ⁱ TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^j UNIVERSITY OF BONN   (Germany)

^k HOSPITAL DE SANTA MARIA   (Portugal)

^l ST GEORGE'S UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^m CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

ⁿ CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^o UNIVERSITY OF BEIRA INTERIOR   (Portugal)

^p MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

more..

Author keywords

exostosin; EXTL3; heparan sulfate; neuro immuno skeletal dysplasia; T cell SCID

Indexed keywords

DISACCHARIDE; EXTL3 PROTEIN; GLYCOSAMINOGLYCAN; N ACETYLGLUCOSAMINYLTRANSFERASE; UNCLASSIFIED DRUG; CHONDROITIN; EXTL3 PROTEIN, HUMAN;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; BONE DYSPLASIA; CONTROLLED STUDY; FIBROBLAST; GENE MUTATION; GLYCOSAMINOGLYCAN METABOLISM; HEMATOPOIETIC STEM CELL; HOMOZYGOTE; HUMAN; IMMUNOPATHOLOGY; MENTAL DISEASE; MISSENSE MUTATION; NEURO IMMUNO SKELETAL DYSPLASIA SYNDROME; NEUROLOGIC DISEASE; PRE T LYMPHOCYTE; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY; SKELETON MALFORMATION; THYMUS; URINE SAMPLING; WHOLE EXOME SEQUENCING; BLOOD; CELL LINE; COPY NUMBER VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; METABOLISM; MUSCULOSKELETAL ABNORMALITIES; OSTEOCHONDRODYSPLASIAS; TUMOR CELL LINE; URINE;

ALLELES; CELL LINE; CELL LINE, TUMOR; CHONDROITIN; DNA COPY NUMBER VARIATIONS; GENOME-WIDE ASSOCIATION STUDY; GLYCOSAMINOGLYCANS; HUMANS; MUSCULOSKELETAL ABNORMALITIES; MUTATION, MISSENSE; N-ACETYLGLUCOSAMINYLTRANSFERASES; OSTEOCHONDRODYSPLASIAS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 85010908031     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.01.013     Document Type: Article

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