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Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

Cone-shaped EpiphysesHomozygous MutationsThumb HypoplasiaMendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsPathologyDisease Gene IdentificationMedicineOrthopaedic SurgeryConnective Tissue DiseaseAutosomal Recessive Disorder