title: [Short-limb skeletal dysplasia with immunodeficiency].
authors.affiliation: Pharmacia-Upjohn Fund for Growth & Development Research, Keio University School of Medicine.
authors.forename: K
authors.initials: K
authors.lastname: Kosaki
authors.forename: H
authors.initials: H
authors.lastname: Yoshihashi
mesh_terms: D018902:Chondrodysplasia Punctata, Rhizomelic / Q000209:etiology / Q000503:physiopathology; D003937:Diagnosis, Differential; D005808:Genes, Recessive; D006801:Humans; D011379:Prognosis; D016511:Severe Combined Immunodeficiency / Q000209:etiology / Q000503:physiopathology