Disease: Brachyolmia- recessive Hobaek type
- A Missense Mutation (c.1037 G > C, p. R346P) in <em>PAPSS2</em> Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family
- A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family
- Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study
- Brachyolmia: radiographic and genetic evidence of heterogeneity
- Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
- Two sibs with brachyolmia type Hobaek: five year follow-up through puberty