Wilcox WR, Wenger DA, Lachman RS, Rimoin DL (2005). "Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]". Am J Med Genet A. 135 (3): 333. doi:10.1002/ajmg.a.30717. PMID 15887286. S2CID 38848656.
Saul RA, Proud V, Taylor HA, Leroy JG, Spranger J (2005). "Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia". Am J Med Genet A. 135 (3): 328–32. doi:10.1002/ajmg.a.30716. PMID 15887289. S2CID 2151584.
Wilcox WR, Lucas BC, Loebel B, Bachman RP, Lachman RS, Rimoin DL (1998). "Pacman dysplasia: report of two affected sibs". Am J Med Genet. 77 (4): 272–6. doi:10.1002/(SICI)1096-8628(19980526)77:4<272::AID-AJMG4>3.0.CO;2-P. PMID 9600734.
Shohat M, Rimoin DL, Gruber HE, Lachman R (1993). "New epiphyseal stippling syndrome with osteoclastic hyperplasia". Am J Med Genet. 45 (5): 558–61. doi:10.1002/ajmg.1320450506. PMID 8456823.
Miller SF, Proud VK, Werner AL, Field FM, Wilcox WF, Lachman RS, Rimoin DL (2003). "Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features". Pediatr Radiol. 33 (4): 256–60. doi:10.1007/s00247-002-0859-4. PMID 12709756. S2CID 185059.
pacman, dysplasia, lethal, autosomal, recessive, skeletal, dysplasia, dysplasia, present, during, fetal, development, other, namesepiphyseal, stippling, with, osteoclastic, hyperplasia, inherited, autosomal, recessive, mannerreferences, edit, omim, entry, 1672. Pacman dysplasia is a lethal autosomal recessive skeletal dysplasia The dysplasia is present during fetal development 1 Pacman dysplasiaOther namesEpiphyseal stippling with osteoclastic hyperplasiaPacman dysplasia is inherited in an autosomal recessive mannerReferences edit OMIM Entry 167220 PACMAN DYSPLASIA Further reading editWilcox WR Wenger DA Lachman RS Rimoin DL 2005 Distinguishing Pacman dysplasia from mucolipidosis II comment on Saul et al 2005 Am J Med Genet A 135 3 333 doi 10 1002 ajmg a 30717 PMID 15887286 S2CID 38848656 Saul RA Proud V Taylor HA Leroy JG Spranger J 2005 Prenatal mucolipidosis type II I cell disease can present as Pacman dysplasia Am J Med Genet A 135 3 328 32 doi 10 1002 ajmg a 30716 PMID 15887289 S2CID 2151584 Wilcox WR Lucas BC Loebel B Bachman RP Lachman RS Rimoin DL 1998 Pacman dysplasia report of two affected sibs Am J Med Genet 77 4 272 6 doi 10 1002 SICI 1096 8628 19980526 77 4 lt 272 AID AJMG4 gt 3 0 CO 2 P PMID 9600734 Shohat M Rimoin DL Gruber HE Lachman R 1993 New epiphyseal stippling syndrome with osteoclastic hyperplasia Am J Med Genet 45 5 558 61 doi 10 1002 ajmg 1320450506 PMID 8456823 Miller SF Proud VK Werner AL Field FM Wilcox WF Lachman RS Rimoin DL 2003 Pacman dysplasia a lethal skeletal dysplasia with variable radiographic features Pediatr Radiol 33 4 256 60 doi 10 1007 s00247 002 0859 4 PMID 12709756 S2CID 185059 External links editOnline Mendelian Inheritance in Man OMIM 167220 nbsp This genetic disorder article is a stub You can help Wikipedia by expanding it vte This article about a disease of musculoskeletal and connective tissue is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Pacman dysplasia amp oldid 1187153078, wikipedia, wiki, book, books, library,
