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Acromesomelic dysplasia, Hunter-Thomson type
Relevant markers:
Acromelia of fingersMesomelia of legs
Incidence: 1/1000000 — - Involved genes:
(gene — definition — chromosome)AMDH — 20q11.2 Inheritance mode: AR Other online databases: OrphaNet: ORPHA968, OMIM References: 1989 Hum Genet Read on PubMed Login for more details.