A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia savarirayan and nievergelt types [6]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 17, 2007, Pages 2079-2081

  Nakamura, Mihoko ^a   Matsuda, Yukihisa ^a,b   Higo, Masaru ^c   Nishimura, Gen ^d  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b Matsuda Children's Clinic   (Japan)

^c Kagoshima Prefectural Crippled Children's Hospital   (Japan)

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

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; BONE DEFORMATION; BONE DYSPLASIA; CASE REPORT; CHROMOSOME ANALYSIS; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; GENETIC DISORDER; HUMAN; LABORATORY TEST; LETTER; MALE; MESOMELIC DYSPLASIA; MOTOR DEVELOPMENT; NEWBORN; NIEVERGELT TYPE; PHENOTYPE; PRIORITY JOURNAL; RADIODIAGNOSIS; SAVARIRAYAN TYPE; SKELETAL GENETIC DISORDER; VAGINAL DELIVERY; VALGUS DEFORMITY; AUTOSOMAL DOMINANT INHERITANCE; BONE DISEASE; DISEASE SEVERITY; DYSPLASIA; FAMILY STUDY; JAPANESE;

BONE DISEASES, DEVELOPMENTAL; CHILD; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENES, DOMINANT; HUMANS; INFANT; INFANT, NEWBORN; MALE;

EID: 34548357175     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31888     Document Type: Letter

References (11)

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