A pair of sibs with tibial hemimelia born to phenotypically normal parents

Journal of Human Genetics

Volumn 48, Issue 4, 2003, Pages 173-176

  Matsuyama, Juntaro ^b   Mabuchi, Akihiko ^a   Zhang, Junwei ^a   Iida, Aritoshi ^c   Ikeda, Toshiyuki ^a   Kimizuka, Mamori ^b   Ikegawa, Shiro ^a,b  

^a UNIVERSITY OF TOKYO   (Japan)

^b National Rehabilitation Center for the Disabled   (Japan)

^c RIKEN   (Japan)

Author keywords

HOXD 11; HOXD 12; Inheritance Sonic hedgehog; Sib; Tibial hemimelia

Indexed keywords

PROTEIN HOXD 11; PROTEIN HOXD 12; SONIC HEDGEHOG PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINICAL MEDICINE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRESCHOOL CHILD; SIBLING; SKELETON MALFORMATION; SKELETON RADIOGRAPHY; TIBIA HEMIMELIA;

CHILD; CHILD, PRESCHOOL; ECTROMELIA; FEMALE; FEMUR; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; LEG; MALE; PHENOTYPE; SIBLINGS; TIBIA;

ERINACEIDAE; RAPHIA FRATER; SAMBUCUS NIGRA CANADENSIS;

EID: 0038246294     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-003-0003-9     Document Type: Article

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