HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing

European Journal of Human Genetics

Volumn 17, Issue 12, 2009, Pages 1570-1576

  Seifert, Wenke ^a,b,c   Beninde, Julia ^d   Hoffmann, Katrin ^a   Lindner, Tom H ^e   Bassir, Christian ^a   Aksu, Fuat ^f   Hübner, Christoph ^a   Verbeek, Nienke E ^g   Mundlos, Stefan ^a   Horn, Denise ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c FREIE UNIVERSITÄT BERLIN   (Germany)

^d Center of Developmental Neurology and Epileptology   (Germany)

^e UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^f UNIVERSITY OF WITTEN HERDECKE   (Germany)

^g UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

15 HYDROXYPROSTAGLANDIN DEHYDROGENASE;

ARTICLE; AUTOSOMAL INHERITANCE; CASE REPORT; CHILD; CLUBBING FINGERS; CRANIOOSTEOARTHROPATHY; ENZYME BINDING; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OSTEOARTHROPATHY; PRIORITY JOURNAL; SCHOOL CHILD;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; DNA MUTATIONAL ANALYSIS; FEMALE; FINGERS; GENES, DOMINANT; GENETIC LOCI; HOMOZYGOTE; HUMANS; HYDROXYPROSTAGLANDIN DEHYDROGENASES; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; OSTEOARTHROPATHY, PRIMARY HYPERTROPHIC; PREGNANCY;

EID: 70450231754     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.104     Document Type: Article

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