Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Nature Genetics

Volumn 28, Issue 1, 2001, Pages 37-41

  Nürnberg, Peter ^a,b   Thiele, Holger ^a,b   Chandler, David ^c   Höhne, Wolfgang ^a   Cunningham, Michael L ^d   Ritter, Heide ^a   Leschik, Gundula ^a   Uhlmann, Karen ^a   Mischung, Claudia ^a   Harrop, Karen ^e   Goldblatt, Jack ^e   Borochowitz, Zvi U ^f   Kotzot, Dieter ^g   Westermann, Frank ^h   Mundlos, Stefan ^a   Braun, Hans Steffen ⁱ   Laing, Nigel ^c   Tinschert, Sigrid ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e KING EDWARD MEMORIAL HOSPITAL   (Australia)

^f BNAI ZION MEDICAL CENTER   (Israel)

^g UNIVERSITY OF ZURICH   (Switzerland)

^h UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

ⁱ NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ANKYLOSIS; ARTICLE; BONE DYSPLASIA; BONE REMODELING; CHILD; CRANIOFACIAL MALFORMATION; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC ORGANIZATION; HUMAN; HYPEROSTOSIS; MAJOR CLINICAL STUDY; MALE; METAPHYSIS; NUCLEOTIDE SEQUENCE; OSSIFICATION; OSTEOSCLEROSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

EID: 0035041718     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0501-37     Document Type: Article

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