Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

American Journal of Human Genetics

Volumn 77, Issue 5, 2005, Pages 741-753

  Ai, Minrong ^a   Heeger, Shauna ^a   Bartels, Cynthia F ^a   Schelling, Deborah K ^a   Warman, Matthew L ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DISEASE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; FRACTURE; GENE MUTATION; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; NEWBORN; NORRIE DISEASE; NUCLEOTIDE SEQUENCE; ONSET AGE; OSTEOPOROSIS; PHENOTYPE; PRIORITY JOURNAL; REPORTER GENE; SIGNAL TRANSDUCTION; VISUAL IMPAIRMENT;

EID: 27244452640     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/497706     Document Type: Article

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