- Title
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Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia
- Authors
- Singh, S., Danda, S., Sharma, N., Shah, H., Madhuri, V., Mir, T.A., Padala, N.Z., Medishetti, R., Ekbote, A., Bhavani, G.S., Sevilimedu, A., Girisha, K.M.
- Source
- Full text @ Eur. J. Hum. Genet.
Pedigrees and Sanger chromatograms. |
Kyphomelic femora in the participants. Radiographs of pelvis [proband 1 at 15 years ( |
Bowing of long bones in the affected individuals. Radiographs of limbs of probands: proband 1 at 15 years ( |
Phenotypes in the |