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Hypophosphatasia
Relevant markers:
Clavicle sparing hypomineralizationHypomineralizationHypomineralization of skullHypoplastic thoracic cageSevere micromelia
Involved genes:
(gene — definition — chromosome)TNSALP Inheritance mode: AR Other antenatal testing: Carriers can be recognized by their low levels of serum alkaline phosphatase and urinary phosphoethanolamine. Links: sonoworld.com Login for more details.