The missing "link": An autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation

Human Genetics

Volumn 133, Issue 1, 2014, Pages 29-39

  Schreml, Julia ^a   Durmaz, Burak ^b   Cogulu, Ozgur ^b   Keupp, Katharina ^a   Beleggia, Filippo ^a   Pohl, Esther ^a   Milz, Esther ^a   Coker, Mahmut ^e   Ucar, Sema Kalkan ^e   Nürnberg, Gudrun ^c   Nürnberg, Peter ^a,c   Kuhn, Joachim ^d   Ozkinay, Ferda ^b  

^a UNIVERSITY OF COLOGNE   (Germany)

^b EGE UNIVERSITY   (Turkey)

^c UNIVERSITY OF COLOGNE   (Germany)

^d RUHR UNIVERSITY BOCHUM   (Germany)

^e EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

DECORIN;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY FAT DISTRIBUTION; CASE REPORT; CELL CULTURE; CELL MUTANT; CHILD; CHROMOSOME 12P; CHROMOSOME 16P; EXOME; FACIES; FEMALE; FEMUR NECK; FIBROBLAST; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENOME ANALYSIS; GLYCOSYLATION; HUMAN; IMMUNOHISTOCHEMISTRY; INTELLECTUAL IMPAIRMENT; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SUPERNATANT; WESTERN BLOTTING; XYLT1 GENE;

EID: 84891885235     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-013-1351-y     Document Type: Article

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