التفاصيل البيبلوغرافية
| العنوان: |
Long-term observation of a patient with dominant omodysplasia |
| المؤلفون: |
Jaime L. Frias, R. Curtis Rogers, Barbara L. Gordon, Jules G. Leroy, Neena L. Champaigne |
| المصدر: |
American Journal of Medical Genetics Part A. 164:1234-1238 |
| بيانات النشر: |
Wiley, 2014. |
| سنة النشر: |
2014 |
| مصطلحات موضوعية: |
Proband, medicine.medical_specialty, Osteochondrodysplasias, Short stature, Bone and Bones, Internal medicine, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Chromosomes, Human, X, Comparative Genomic Hybridization, Omodysplasia, Autosomal dominant omodysplasia, Autosomal recessive omodysplasia, business.industry, Rhizomelia, Facies, Humerus, Metacarpal Bones, Middle Aged, medicine.disease, Dermatology, Osteochondrodysplasia, Radiography, Natural history, Phenotype, Endocrinology, Female, Chromosome Deletion, medicine.symptom, T-Box Domain Proteins, business |
| الوصف: |
We report on the natural history of a female with dominant omodysplasia, a rare osteochondrodysplasia with short stature, rhizomelia of the extremities (upper extremities more affected), and short first metacarpals. The proband had normal molecular analysis of the glypican 6 gene (GPC6), which was recently reported as a candidate for autosomal recessive omodysplasia. The findings in this patient were compared to other known and suspected cases of autosomal dominant omodysplasia. Mild rhizomelic shortening of the lower extremities has not been previously reported. © 2014 Wiley Periodicals, Inc. |
| تدمد: |
1552-4825 |
| URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20bd2bf8b11c9384ebff7affa9e64b0
https://doi.org/10.1002/ajmg.a.36408 |
| حقوق: |
CLOSED |
| رقم الأكسشن: |
edsair.doi.dedup.....c20bd2bf8b11c9384ebff7affa9e64b0 |
| قاعدة البيانات: |
OpenAIRE |
