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Spondyloepiphyseal dysplasia congemita
Relevant markers:
ClubfootFlat facePolyhydramniosShort neckShort trunkParents markers:KyphoscoliosisSpine and Pelvis
Involved genes:
(gene — definition — chromosome)COL2A1 Other online databases: OMIM References: 2006 Penat Diagn Read on PubMed 2010 Fetal Pediatr Pathol Read on PubMed Login for more details.