| 概要 |
Acromesomelic dysplasia (AMD) is a group of autosomal recessive form of skeletal disorders characterized by dwarfism associated with anomalies of middle and distal segments of the extremities. Mutations in four genes (GDF5, NPR2, BMPR1B, and PRKG2) have been reported to cause different forms of AMD.
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| 著者 |
Diaz-Gonzalez F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montane L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldan B, Nishimura G, Offiah AC, Faruq M, Heath KE |
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