A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia

Journal of Human Genetics

Volumn 53, Issue 8, 2008, Pages 764-768

  Miyake, Atsushi ^a,e   Nishimura, Gen ^b   Futami, Toru ^c   Ohashi, Hirofumi ^d   Chiba, Kazuhiro ^e   Toyama, Yoshiaki ^e   Furuichi, Tatsuya ^a   Ikegawa, Shiro ^a  

^a RIKEN   (Japan)

^b TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^c SHIGA MEDICAL CENTER FOR CHILDREN   (Japan)

^d SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^e KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Desbuquois dysplasia; Diastrophic dysplasia (DTD); Diastrophic dysplasia sulfate transporter (DTDST); Genotype phenotype correlation; Recessive form of multiple epiphyseal dysplasia (r MED)

Indexed keywords

ARTICLE; CASE REPORT; CHONDRODYSPLASIA; DYSPLASIA; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; PHENOTYPE; PRESCHOOL CHILD; RADIODIAGNOSIS;

AMINO ACID SEQUENCE; ANIMALS; ANION TRANSPORT PROTEINS; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENES, RECESSIVE; HETEROZYGOTE DETECTION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICE; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POINT MUTATION;

EID: 48549096525     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-008-0305-z     Document Type: Article

References (18)

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