Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

Journal of Clinical Endocrinology and Metabolism

Volumn 96, Issue 1, 2011, Pages

  Morava, Eva ^a   Kühnisch, Jirko ^d,e   Drijvers, Jefte M ^a   Robben, Joris H ^f   Cremers, Cor ^b,f   Van Setten, Petra ^g   Branten, Amanda ^g,h   Stumpp, Sabine ^d   De Jong, Alphons ^g   Voesenek, Krysta ^f   Vermeer, Sascha ^f   Heister, Angelien ^f   Claahsen Van Der Grinten, Hedi L ^a   O'Neill, Charles W ⁱ   Willemsen, Michèl A ^b   Lefeber, Dirk ^a   Deen, Peter M T ^f   Kornak, Uwe ^d,e   Kremer, Hannie ^c,f   Wevers, Ron A ^a  

^a RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^b RADBOUD UNIVERSITY   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e FREIE UNIVERSITÄT BERLIN   (Germany)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g RIJNSTATE HOSPITAL   (Netherlands)

^h JEROEN BOSCH HOSPITAL   (Netherlands)

ⁱ EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID;

ADOLESCENT; ADULT; ANIMAL EXPERIMENT; ANKH GENE; ANKYLOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL MEMBRANE; CENTRAL NERVOUS SYSTEM; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; CONSANGUINITY; CONTROLLED STUDY; FAMILY; FEMALE; FIBROBLAST; GENE MAPPING; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; HYPOPHOSPHATEMIA; JOINT DEGENERATION; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOUSE; MUTATION; NONHUMAN; OSTEOARTHRITIS; OSTEOPENIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SEROLOGY; SOFT TISSUE CALCIFICATION; SPONDYLOARTHROPATHY;

MURINAE;

EID: 78650921236     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1539     Document Type: Article

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