Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia

European Journal of Human Genetics

Volumn 23, Issue 2, 2015, Pages 264-266

  Li, Dong ^a,b   Weber, David R ^a,b   Deardorff, Matthew A ^a,b   Hakonarson, Hakon ^a,b   Levine, Michael A ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGENASE 3; MMP13 PROTEIN, HUMAN; STOP CODON;

ADOLESCENT; ARTHRALGIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE BOWING; BONE DYSPLASIA; CASE REPORT; CHILD; CHONDRODYSPLASIA; CHROMOSOME 11Q; COXA VARA; EXON; FLATFOOT; GAIT DISORDER; HOMOZYGOSITY; HUMAN; KNEE PAIN; MALE; METAPHYSEAL ANADYSPLASIA; NONSENSE MUTATION; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; STOP CODON; WHOLE EXOME SEQUENCING; GENETICS; LIMB DEFORMITIES, CONGENITAL; OSTEOCHONDRODYSPLASIAS; RECESSIVE GENE; SIBLING;

ADOLESCENT; CHILD; CODON, NONSENSE; EXONS; GENES, RECESSIVE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MATRIX METALLOPROTEINASE 13; OSTEOCHONDRODYSPLASIAS; SIBLINGS;

EID: 84921365070     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.76     Document Type: Article

References (17)

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