Recessive multiple epiphyseal dysplasia (rMED): Phenotype delineation in eighteen homozygotes for DTDST mutation R279W [6]

Journal of Medical Genetics

Volumn 40, Issue 1, 2003, Pages 65-71

  Ballhausen, D ^a   Bonafe L ^a   Terhal, P ^b   Unger, S L ^c   Bellus, G ^d   Classen, M ^e   Hamel, B C ^f   Spranger, J ^g   Zabel, B ^h   Cohn, D H ^c   Cole, W G ⁱ   Hecht, J T ^j   Superti Furga, A ^a,k  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF COLORADO   (United States)

^e Klinikum Links der Weser   (Germany)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g GREENWOOD GENETIC CENTER   (United States)

^h JOHANNES GUTENBERG UNIVERSITY   (Germany)

ⁱ HOSPITAL FOR SICK CHILDREN   (Canada)

^j UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^k LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL ARTICLE; CONTROLLED STUDY; DYSPLASIA; FEMALE; GENE MUTATION; GENETIC COUNSELING; HOMOZYGOSITY; HUMAN; LETTER; MALE; MOLECULAR GENETICS; MULTIPLE EPIPHYSEAL DYSPLASIA; MUTATION RATE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANION TRANSPORT PROTEINS; ARGININE; BIOLOGICAL TRANSPORT; CARRIER PROTEINS; CHILD; CHROMOSOME MAPPING; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; SULFATES; TRYPTOPHAN;

EID: 0037238318     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (25)

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