Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations

Clinical Genetics

Volumn 82, Issue 2, 2012, Pages 147-156

  Akawi, N A ^a   Al Gazali, L ^a   Ali, B R ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

Author keywords

COL11A1; Collagen type XI; Fibrochondrogenesis; Marshall syndrome; Stickler syndrome type 2

Indexed keywords

COLLAGEN TYPE 11; COLLAGEN TYPE 11A1; UNCLASSIFIED DRUG;

ARTICLE; BONE DYSPLASIA; CASE REPORT; CATARACT; CHROMOSOME 1; CLEFT PALATE; CODON; CONTRACTURE; DEVELOPMENTAL DISORDER; EXON; FEMALE; FIBROCHONDROGENESIS; GENE ACTIVATION; GENE MAPPING; GENE MUTATION; GENETIC SCREENING; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; INTRON; KYPHOSIS; MOLECULAR PATHOLOGY; MYOPIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TWIN PREGNANCY; UNITED ARAB EMIRATES; WALKING DIFFICULTY;

CHILD; CHILD, PRESCHOOL; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; CHROMOSOME MAPPING; COLLAGEN TYPE XI; CONSANGUINITY; FAMILY; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; LIFE EXPECTANCY; MALE; MUTATION; PEDIGREE; PHENOTYPE; UNITED ARAB EMIRATES;

EID: 84856230601     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01734.x     Document Type: Article

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