FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome

Molecular Vision

Volumn 18, Issue , 2012, Pages 449-454

  Lin, Ying ^a,b   Liang, Xuanwei ^a   Ai, Siming ^a   Chen, Chuan ^a   Liu, Xialin ^a   Luo, Lixia ^a   Ye, Shaobi ^a   Li, Baoxin ^b   Liu, Yizhi ^a   Yang, Huasheng ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b HARBIN MEDICAL UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; GENOMIC DNA; GLUTAMINE; PROLINE;

ADULT; ANTERIOR EYE CHAMBER DEPTH; ARTICLE; BEAKLIKE NOSE; CHILD; CHINESE; CLINICAL FEATURE; CODON; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; CROUZON SYNDROME; DNA POLYMORPHISM; DNA SEQUENCE; EXON; EXOPHTHALMOS; EYE AXIS LENGTH; EYE PHOTOGRAPHY; FEMALE; FGFR2 GENE; GENE AMPLIFICATION; GENE PRODUCT; HETEROZYGOSITY; HUMAN; LEUKOCYTE; MALE; MIDFACE HYPOPLASIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PERIMETRY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; SHALLOW ORBIT; SLIT LAMP; VISUAL ACUITY;

ADULT; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHINA; CRANIOFACIAL DYSOSTOSIS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; EXONS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2;

EID: 84863235625     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

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