Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

European Journal of Human Genetics

Volumn 23, Issue 3, 2015, Pages 342-346

  Gonzaga Jauregui, Claudia ^a   Gamble, Candace N ^b   Yuan, Bo ^a   Penney, Samantha ^a   Jhangiani, Shalini ^a   Muzny, Donna M ^a   Gibbs, Richard A ^a   Lupski, James R ^a,c   Hecht, Jacqueline T ^b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; COLLAGEN TYPE XXVII ALPHA 1; UNCLASSIFIED DRUG; COL27A1 PROTEIN, HUMAN; FIBRILLAR COLLAGEN; PROSTAGLANDIN F;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CLINODACTYLY; COXA VARA; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HIP DISLOCATION; HIP DYSPLASIA; HUMAN; MALE; MIDFACE HYPOPLASIA; MUSCULOSKELETAL DISEASE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PUERTO RICAN; SCOLIOSIS; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; STEEL SYNDROME; AMINO ACID SEQUENCE; CHEMISTRY; COMPARATIVE GENOMIC HYBRIDIZATION; EPIDEMIOLOGY; EXOME; FOUNDER EFFECT; GENETICS; GENOTYPE; HISPANIC; INFANT; MOLECULAR GENETICS; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PUERTO RICO; SEQUENCE ALIGNMENT;

AMINO ACID SEQUENCE; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; EXOME; FEMALE; FIBRILLAR COLLAGENS; FOLLOW-UP STUDIES; FOUNDER EFFECT; GENOTYPE; HISPANIC AMERICANS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSTAGLANDINS F; PUERTO RICO; SEQUENCE ALIGNMENT;

EID: 84938417638     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.107     Document Type: Article

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