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Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
Eur J Hum Genet. 2000 Aug;8(8):645-8. doi: 10.1038/sj.ejhg.5200507.
Eur J Hum Genet. 2000.
PMID: 10951528
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis.
Körkkö J, Cohn DH, Ala-Kokko L, Krakow D, Prockop DJ.
Körkkö J, et al.
Am J Med Genet. 2000 May 15;92(2):95-100. doi: 10.1002/(sici)1096-8628(20000515)92:2<95::aid-ajmg3>3.0.co;2-9.
Am J Med Genet. 2000.
PMID: 10797431
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