Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

Nature Genetics

Volumn 12, Issue 2, 1996, Pages 209-211

  Sood, Sumesh ^a   Eldadah, Zayz A ^a   Krause, Wilma L ^b   McIntosh, Iain ^a,c   Dietz, Harry C ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN'S HEALTHCARE OF ATLANTA   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN;

ABDOMINAL WALL DEFECT; ALLELE; APNEA; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; FOOT MALFORMATION; GENE MUTATION; HUMAN; MARFAN SYNDROME; MUSCLE HYPOTONIA; NERVOUS SYSTEM DEVELOPMENT; PHENOTYPE; PRIORITY JOURNAL; SHPRINTZEN GOLDBERG SYNDROME;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOLECULAR PROBE TECHNIQUES; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE PROBES; POINT MUTATION; SYNDROME;

EID: 0030020322     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0296-209     Document Type: Article

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