Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP

American Journal of Human Genetics

Volumn 88, Issue 5, 2011, Pages 608-615

  Vissers, Lisenka E L M ^a   Lausch, Ekkehart ^b   Unger, Sheila ^b,c   Campos Xavier, Ana Belinda ^c   Gilissen, Christian ^a   Rossi, Antonio ^d   Del Rosario, Marisol ^a   Venselaar, Hanka ^e   Knoll, Ute ^f   Nampoothiri, Sheela ^g   Nair, Mohandas ^h   Spranger, Jürgen ^b   Brunner, Han G ^a   Bonafé, Luisa ^c   Veltman, Joris A ^a   Zabel, Bernhard ^b   Superti Furga, Andrea ^b,c  

^a RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^b UNIVERSITY OF FREIBURG   (Germany)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^d UNIVERSITY OF PAVIA   (Italy)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f Center for Prenatal Diagnosis   (Germany)

^g AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^h GOVERNMENT MEDICAL COLLEGE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

GPAPP ENZYME; IMPAD1 ENZYME; PHOSPHATASE; UNCLASSIFIED DRUG;

ARTICLE; BRACHYDACTYLY; CASE REPORT; CHONDRODYSPLASIA; CLEFT PALATE; CLINICAL FEATURE; FACE DYSMORPHIA; FEMALE; HOMOZYGOSITY; HUMAN; INFANT; JOINT DISLOCATION; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SHORT STATURE;

AMINO ACID SEQUENCE; BONE DISEASES, DEVELOPMENTAL; FEMALE; GOLGI APPARATUS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; JOINT DISEASES; LIMB DEFORMITIES, CONGENITAL; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEOTIDES; PHENOTYPE; PHOSPHORIC MONOESTER HYDROLASES; PROTEIN STRUCTURE, QUATERNARY; PROTEOGLYCANS; SULFOTRANSFERASES; YOUNG ADULT;

MUS;

EID: 79955809888     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.04.002     Document Type: Article

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